Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria

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Both …"><meta name="keywords" content="pmid:2243128, PMC296897, doi:10.1172/JCI114869, Research Support, Non-U.S. Gov't, M H Delfau, C Picat, B Grandchamp, Acute Disease, Amino Acid Sequence, Base Sequence, Blotting, Western, Cloning, Molecular, Escherichia coli / genetics, Exons*, Genes, Humans, Hydrogen-Ion Concentration, Hydroxymethylbilane Synthase / genetics*, Molecular Sequence Data, Mutation*, Polymerase Chain Reaction, Porphyrias / enzymology, Porphyrias / genetics*, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/2243128/"><meta property="og:description" content="Two mutations of the porphobilinogen (PBG) deaminase gene resulting in cross-reacting immunological material (CRIM) positive forms of acute intermittent porphyria (AIP) have been identified by in vitro amplification of cDNA and cloning of the amplified products in a bacterial expression vector. 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new collection</label> </li> <li> <input type="radio" id="collections-action-panel-existing" class="collections-existing" name="collections" value="existing" checked="true" data-ga-category="save_share" data-ga-action="collections" data-ga-label="collections_radio_existing"> <label for="collections-action-panel-existing">Add to an existing collection</label> </li> </ul> </div> <div class="controls-wrapper"> <div class="action-panel-control-wrap new-collections-controls"> <label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk"> Name your collection: </label> <input type="text" name="add-to-new-collection" id="collections-action-panel-add-to-new" class="collections-action-add-to-new" pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/" maxlength="100" data-ga-category="save_share" data-ga-action="create_collection" data-ga-label="non_favorties_collection"> <div class="collections-new-name-too-long usa-input-error-message selection-validation-message"> Name must be less than 100 characters </div> </div> <div class="action-panel-control-wrap existing-collections-controls"> <label for="collections-action-panel-add-to-existing" class="action-panel-label"> Choose a collection: </label> <select id="collections-action-panel-add-to-existing" class="action-panel-selector collections-action-add-to-existing" data-ga-category="save_share" data-ga-action="select_collection" data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"> </select> <div class="collections-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your collection due to an error<br> <a href="#">Please try again</a> </div> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore data-ga-category="save_share" data-ga-action="collections" data-ga-label="add"> Add </button> <button class="action-panel-cancel" aria-label="Close 'Add to Collections' panel" ref="linksrc=close_collections_panel" aria-controls="collections-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="collections" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="bibliography-action-panel" class="bibliography-action-panel action-panel in-progress-dots-panel" aria-hidden="true" data-bibliography-open-panel-enabled="false" data-bibliography-open-panel-url-hash="#open-bibliography-panel"> <div class="inner-wrap"> <h3 class="action-panel-heading"> Add to My Bibliography </h3> <form id="bibliography-action-panel-form" class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors" data-add-to-bibliography-max-amount="100" data-add-to-bibliography-batch-size="10" data-bibliography-delegates-url="/list-bibliography-delegates/" data-add-to-bibliography-url="/add-to-bibliography/" data-get-article-ids-by-search-url="/get-article-ids-by-search/" data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/"> <input type="hidden" name="csrfmiddlewaretoken" value="SxiWMtKt7cXuFpvCp5Tmj7J37OOHEgSa8kSd2cKYeINL8uxjgE2DhkIOQIApkTlO"> <div class="action-panel-control-wrap bibliographies-controls"> <div class="choice-group"> <ul class="bibliographies-action-add radio-group-items"> <li> <input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/> <label for="my-bibliography">My Bibliography</label> </li> </ul> </div> </div> <div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your delegates due to an error<br> <a href="#">Please try again</a> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore> Add </button> <button class="action-panel-cancel" aria-label="Close 'Add to bibliography' panel" ref="linksrc=close_bibliography_panel" aria-controls="bibliography-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="mybib" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true" data-saved-search-open-panel-enabled="false" data-saved-search-open-panel-url-hash="#open-saved-search-panel"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Your saved search </h2> <form id="saved-search-action-panel-form" class="saved-search-action-panel-form action-panel-content action-form" data-create-saved-search-url="/create-saved-search/" data-try-search-terms-url="/try-search-term/" data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/"> <input type="hidden" name="csrfmiddlewaretoken" value="SxiWMtKt7cXuFpvCp5Tmj7J37OOHEgSa8kSd2cKYeINL8uxjgE2DhkIOQIApkTlO"> <div class="action-panel-control-wrap"> <label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk"> Name of saved search: </label> <input maxlength="200" type="text" name="saved-search-name" id="saved-search-name" class="saved-search-name" value="" required pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"> </div> <div class="action-panel-control-wrap"> <label for="saved-search-term" class="action-panel-label required-field-asterisk"> Search terms: </label> <textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea> </div> <div class="test-search-term-wrap"> <a href="#" class="try-search-term">Test search terms</a> </div> <div class="choice-group action-panel-extra-margin-top"> <span class="action-panel-label" id="fieldset-label"> Would you like email updates of new search results? </span> <fieldset id="saved-search-alert" aria-describedby="fieldset-label"> <legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend> <ul class="radio-group-items"> <li> <input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked> <label for="saved-search-alert-yes" class="action-panel-label">Yes</label> </li> <li> <input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no"> <label for="saved-search-alert-no" class="action-panel-label">No</label> </li> </ul> </fieldset> </div> <div class="alert-schedule-wrap"> <div class="action-panel-control-wrap"> <label class="action-panel-label"> Email: </label> <span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span> </div> <div class="action-panel-control-wrap action-panel-extra-margin-top"> <label for="saved-search-frequency" class="action-panel-label"> Frequency: </label> <select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency"> <option value="monthly">Monthly</option> <option value="weekly">Weekly</option> <option value="daily">Daily</option> </select> </div> <div class="action-panel-control-wrap saved-search-monthly-additional"> <label for="saved-search-monthly-on-day" class="action-panel-label"> Which day? </label> <select id="saved-search-monthly-on-day" class="no-border-panel-selector"> <option value="Sunday">The first Sunday</option> <option value="Monday">The first Monday</option> <option value="Tuesday">The first Tuesday</option> <option value="Wednesday">The first Wednesday</option> <option value="Thursday">The first Thursday</option> <option value="Friday">The first Friday</option> <option value="Saturday">The first Saturday</option> <option value="day">The first day</option> <option value="weekday">The first weekday</option> </select> </div> <div class="action-panel-control-wrap saved-search-weekly-additional"> <label for="saved-search-weekly-on-day" class="action-panel-label"> Which day? </label> <select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day"> <option value="Sunday">Sunday</option> <option value="Monday">Monday</option> <option value="Tuesday">Tuesday</option> <option value="Wednesday">Wednesday</option> <option value="Thursday">Thursday</option> <option value="Friday">Friday</option> <option value="Saturday">Saturday</option> </select> </div> <div class="action-panel-control-wrap"> <label for="saved-search-report" class="action-panel-label"> Report format: </label> <select id="saved-search-report" class="no-border-panel-selector saved-search-report"> <option value="DocSum">Summary</option> <option value="DocSumText">Summary (text)</option> <option value="Abstract">Abstract</option> <option value="AbstractText">Abstract (text)</option> <option value="MEDLINE">PubMed</option> </select> </div> <div class="action-panel-control-wrap"> <label for="saved-search-amount" class="action-panel-label"> Send at most: </label> <select id="saved-search-amount" class="no-border-panel-selector saved-search-amount"> <option value="1">1 item</option> <option value="5" selected>5 items</option> <option value="10">10 items</option> <option value="20">20 items</option> <option value="50">50 items</option> <option value="100">100 items</option> <option value="200">200 items</option> </select> </div> <div> <input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result"> <label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox"> Send even when there aren't any new results </label> </div> <div class="action-panel-control-wrap option-text-in-email-wrap"> <label for="saved-search-email-text" class="action-panel-label"> Optional text in email: </label> <textarea name="saved-search-email-text" id="saved-search-email-text" class="saved-search-email-text"></textarea> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Saving..." data-ga-category="save_share" data-ga-action="alert" data-ga-label="save"> Save </button> <button class="action-panel-cancel" aria-label="Close 'Your saved search' panel" ref="linksrc=close_saved_search_panel" aria-controls="saved-search-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="alert" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Create a file for external citation management software </h2> <form id="citation-manager-action-panel-form" class="action-panel-content action-form" action="/results-export-ids/" data-by-search-action="/results-export-search-data/" data-by-ids-action="/results-export-ids/" method="post" data-by-search-method="post" data-by-ids-method="post"> <input type="hidden" name="csrfmiddlewaretoken" value="SxiWMtKt7cXuFpvCp5Tmj7J37OOHEgSa8kSd2cKYeINL8uxjgE2DhkIOQIApkTlO"> <input name="results-format" type="hidden" value="pubmed"/> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Sending..." data-ga-category="save_share" data-ga-action="citation_manager" data-ga-label="save"> Create file </button> <button class="action-panel-cancel" aria-label="Close 'Send citations to citation manager' panel" ref="linksrc=close_citation_manager_panel" aria-controls="citation-manager-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="citation_manager" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Your RSS Feed </h2> <form id="rss-action-panel-form" class="rss-action-panel-form action-panel-content action-form" data-create-rss-feed-url="/create-rss-feed-url/" data-search-form-term-value=""> <input type="hidden" name="csrfmiddlewaretoken" value="SxiWMtKt7cXuFpvCp5Tmj7J37OOHEgSa8kSd2cKYeINL8uxjgE2DhkIOQIApkTlO"> <div class="action-panel-control-wrap"> <label for="rss-name" class="action-panel-label required-field-asterisk"> Name of RSS Feed: </label> <input maxlength="200" placeholder="Name" type="text" name="rss-name" id="rss-name" class="rss-name" value='' required pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"> </div> <div class="rss-limit-wrap"> <div class="action-panel-control-wrap action-panel-extra-margin-top"> <label for="rss-limit" class="action-panel-label"> Number of items displayed: </label> <select id="rss-limit" class="no-border-panel-selector rss-limit"> <option value="5">5</option> <option value="10">10</option> <option value="15" selected="selected">15</option> <option value="20">20</option> <option value="50">50</option> <option value="100">100</option> </select> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Creating..." data-ga-category="save_share" data-ga-action="alert" data-ga-label="save"> Create RSS </button> <button class="action-panel-cancel" aria-label="Close 'Your RSS' panel" ref="linksrc=close_rss_panel" aria-controls="rss-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="alert" data-ga-label="cancel"> Cancel </button> </div> <div class="action-panel-control-wrap rss-link-copy-wrap"> <label for="rss-link" class="usa-sr-only">RSS Link</label> <input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link"> <button type="button" disabled class="rss-link-copy-button disabled" data-ga-category="save_share" data-ga-action="rss" data-ga-label="copy"> Copy </button> </div> </form> </div> </div> </div> </div> <div class="article-page" id="article-page" data-article-pmid="2243128"> <aside class="page-sidebar"> <div class="inner-wrap"> <div class="full-text-links"> <div class="full-view"> <h3 class="title"> Full text links </h3> <div class="full-text-links-list"> <a class="link-item dialog-focus" 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href="#full-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Picat+C&cauthor_id=2243128" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="C Picat">C Picat</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=de+Rooij+FW&cauthor_id=2243128" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="F W de Rooij">F W de Rooij</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Hamer+K&cauthor_id=2243128" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="K Hamer">K Hamer</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bogard+M&cauthor_id=2243128" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="M Bogard">M Bogard</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Wilson+JH&cauthor_id=2243128" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="J H Wilson">J H Wilson</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Deybach+JC&cauthor_id=2243128" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="J C Deybach">J C Deybach</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Nordmann+Y&cauthor_id=2243128" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Y Nordmann">Y Nordmann</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Grandchamp+B&cauthor_id=2243128" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="B Grandchamp">B Grandchamp</a></span> </div> </div> </div> <div class="short-article-details"> Affiliations <button class="more-details" id="toggle-authors" data-alt-text="Collapse" aria-controls="expanded-authors" aria-expanded="false" data-pinger-ignore data-fetch-url="/2243128/long-authors/" data-id-prefix=""> <span class="title"> Expand </span> </button> </div> <div class="extended-article-details" id="expanded-authors" aria-hidden="true"> <div class="expanded-authors" id="full-view-expanded-authors"> <div class="affiliations"> <h3 class="title"> Affiliation </h3> <ul class="item-list"> <li data-affiliation-id="full-view-affiliation-1" id="full-view-affiliation-1" ><sup class="key">1</sup> Laboratoire de Génétique Moleculaire, Faculté Xavier Bichat, Paris, France.</li> </ul> </div> </div> </div> <ul class="identifiers" 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point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria </h1> <div class="short-citation"> <span class="authors-list"> <span class="authors-list-item "><span class="full-name">M H Delfau</span><span class="citation-separator"> et al.</span></span> </span> <span class="citation-journal"> J Clin Invest<span class="citation-separator">.</span> </span> <span class="date"> <span class="citation-year">1990 Nov</span><span class="citation-separator">.</span> </span> </div> <div class="more-article-details-section with-display-settings"> <button class="more-article-details" id="toggle-article-details" data-alt-text="Hide details" ref="linksrc=toggle_article_details" aria-controls="full-article-details" aria-expanded="false" data-fetch-url="/2243128/long-authors/" data-id-prefix=""> <span class="title">Show details</span> </button> <div class="display-options" data-format-key="format" data-default-format-value="abstract" 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data-ga-label="M H Delfau">M H Delfau</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Laboratoire de Génétique Moleculaire, Faculté Xavier Bichat, Paris, France." href="#short-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Picat+C&cauthor_id=2243128" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="C Picat">C Picat</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=de+Rooij+FW&cauthor_id=2243128" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="F W de Rooij">F W de Rooij</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Hamer+K&cauthor_id=2243128" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="K Hamer">K Hamer</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bogard+M&cauthor_id=2243128" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="M Bogard">M Bogard</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Wilson+JH&cauthor_id=2243128" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="J H Wilson">J H Wilson</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Deybach+JC&cauthor_id=2243128" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="J C Deybach">J C Deybach</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Nordmann+Y&cauthor_id=2243128" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Y Nordmann">Y Nordmann</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Grandchamp+B&cauthor_id=2243128" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="B Grandchamp">B Grandchamp</a></span> </div> </div> <div class="affiliations"> <h3 class="title"> Affiliation </h3> <ul class="item-list"> <li data-affiliation-id="short-view-affiliation-1" id="short-view-affiliation-1" ><sup class="key">1</sup> Laboratoire de Génétique Moleculaire, Faculté Xavier Bichat, Paris, France.</li> </ul> </div> </div> <ul class="identifiers" id="short-view-identifiers"> <li> <span class="identifier pubmed"> <span class="id-label"> PMID: </span> <strong class="current-id" title="PubMed ID">2243128</strong> </span> </li> <li> <span class="identifier pmc"> <span class="id-label"> PMCID: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&article_id=PMC296897&id_type=PMC" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC296897/" data-ga-category="full_text" data-ga-action="PMCID" > PMC296897 </a> </span> </li> <li> <span class="identifier doi"> <span class="id-label"> DOI: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&article_id=10.1172/JCI114869&id_type=DOI" href="https://doi.org/10.1172/jci114869" data-ga-category="full_text" data-ga-action="DOI" > 10.1172/JCI114869 </a> </span> </li> </ul> <div class="in-clipboard-label " hidden> Item in Clipboard </div> </div> </div> </header> <div class="actions-buttons inline"><div class="inner-wrap"><button class="full-text-links-button full-text-links-dialog-trigger" title="Open dialog with full text links" ref="linksrc=full_text_links"> Full text links </button><button class="citation-button citation-dialog-trigger" aria-label="Open dialog with citation text in different styles" data-ga-category="save_share" data-ga-action="cite" data-ga-label="open" data-all-citations-url="/2243128/citations/" data-citation-style="nlm" data-pubmed-format-link="/2243128/export/"><span class="button-label">Cite</span></button><button class="more-actions-button more-actions-dialog-trigger" title="Open dialog with more actions to take" ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format" data-default-format-value="abstract" data-current-format-value="abstract" role="region"><button class="trigger usa-button" title="Change format" data-ga-category="display_options" data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title"> Display options </div><div class="content"><div class="format-container"><span class="option-label"> Format </span><select name="format" data-initial-value="abstract" aria-label="Display format" id="inline-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div> <div class="abstract" id="abstract"> <h2 class="title"> Abstract </h2> <div class="abstract-content selected" id="eng-abstract"> <p> Two mutations of the porphobilinogen (PBG) deaminase gene resulting in cross-reacting immunological material (CRIM) positive forms of acute intermittent porphyria (AIP) have been identified by in vitro amplification of cDNA and cloning of the amplified products in a bacterial expression vector. Both mutations resulted from G to A transitions in exon 10 of the gene and produced arginine to glutamine substitutions in the abnormal protein. Expression of mutant cDNA in Escherichia coli reveals that one but not the other of these amino acid changes results in a striking decrease of the optimal pH of the mutated enzyme. One or the other of these two mutations accounted for the defect causing AIP in six unrelated patients among the eight patients evaluated with the CRIM positive subtype of this disorder. </p> </div> </div> <p class="disclaimer" id="disclaimer"> <a href="/disclaimer/" target="_blank" ga_category="literature_resources" ga_action="disclaimer_link" ga_label="under_abstract">PubMed Disclaimer</a> </p> <div class="similar-articles" id="similar"> <h2 class="title"> Similar articles </h2> <ul class="articles-list" id="similar-articles-list"> <li class="full-docsum"> <div class="docsum-content" style="display:inline;"> <a class="docsum-title" href="/10502788/" ref="article_id=10502788&linksrc=similar_articles_link&ordinalpos=1" data-ga-category="similar_article" data-ga-action="10502788" data-ga-label=""> Acute intermittent porphyria: characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation 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ref="linksrc=references_link&ordinalpos=1" data-ga-category="reference" data-ga-action="3529035" > PubMed </a> </li> </ol> </li> <li> <ol class="references-and-notes-list"> <li class="skip-numbering" value="1"> Proc Natl Acad Sci U S A. 1989 Dec;86(23):9253-7 - <a class="reference-link" href="/2594764/" ref="linksrc=references_link&ordinalpos=1" data-ga-category="reference" data-ga-action="2594764" > PubMed </a> </li> </ol> </li> <li> <ol class="references-and-notes-list"> <li class="skip-numbering" value="1"> Eur J Biochem. 1987 Jan 2;162(1):105-10 - <a class="reference-link" href="/3816774/" ref="linksrc=references_link&ordinalpos=1" data-ga-category="reference" data-ga-action="3816774" > PubMed </a> </li> </ol> </li> <li> <ol class="references-and-notes-list"> <li class="skip-numbering" value="1"> Nucleic Acids Res. 1987 Jan 26;15(2):797-811 - <a class="reference-link" href="/3822815/" ref="linksrc=references_link&ordinalpos=1" data-ga-category="reference" data-ga-action="3822815" > PubMed </a> </li> </ol> </li> <li> <ol class="references-and-notes-list"> <li class="skip-numbering" value="1"> Lancet. 1987 Sep 26;2(8561):706-8 - <a class="reference-link" href="/2888941/" ref="linksrc=references_link&ordinalpos=1" data-ga-category="reference" data-ga-action="2888941" > PubMed </a> </li> </ol> </li> </ol> <div class="actions-bar"> <button class="show-all" ref="linksrc=show_all_references_link" aria-controls="top-references-list-1" data-next-page-url="/2243128/references/" data-ga-category="reference" data-ga-action="show_more" > Show all 18 references </button> </div> </div> </div> </div> <div id="publication-types" class="publication-types keywords-section"> <h2 class="title"> Publication types </h2> <ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Research Support, Non-U.S. Gov't" tabindex="0" 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trigger keyword-link" aria-label="Toggle dropdown menu for keyword Hydroxymethylbilane Synthase" tabindex="0" aria-controls="keyword-actions-substances-0" aria-expanded="false" data-pinger-ignore> Hydroxymethylbilane Synthase </button><div id="keyword-actions-substances-0" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Hydroxymethylbilane Synthase"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Hydroxymethylbilane+Synthase%22%5Bnm%5D&sort=date&sort_order=desc" data-href="/?term=%22Hydroxymethylbilane+Synthase%22%5Bnm%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&keyword="Hydroxymethylbilane Synthase"[nm]" data-ga-category="search" data-ga-action="substance" data-ga-label="Hydroxymethylbilane Synthase"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" 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class="related-links-list"><li><a title="Clinical variations associated with publication" href="https://www.ncbi.nlm.nih.gov/clinvar?linkname=pubmed_clinvar&from_uid=2243128" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=2243128&ordinalpos=1&linkpos=1"> ClinVar </a></li><li><a title="Link to related Genes" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene&from_uid=2243128" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=2243128&ordinalpos=1&linkpos=2"> Gene </a></li><li><a title="Related information in MedGen" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen&from_uid=2243128" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=2243128&ordinalpos=1&linkpos=3"> MedGen </a></li><li><a title="Related information in MedGen (OMIM)" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen_omim&from_uid=2243128" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=2243128&ordinalpos=1&linkpos=4"> MedGen (OMIM) </a></li><li><a title="Published Nucleotide sequences" href="https://www.ncbi.nlm.nih.gov/nuccore?linkname=pubmed_nuccore&from_uid=2243128" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=2243128&ordinalpos=1&linkpos=5"> Nucleotide </a></li><li><a title="OMIM (cited) Links" href="https://www.ncbi.nlm.nih.gov/omim?linkname=pubmed_omim_cited&from_uid=2243128" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=2243128&ordinalpos=1&linkpos=6"> OMIM (cited) </a></li><li><a title="Published protein sequences" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein&from_uid=2243128" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=2243128&ordinalpos=1&linkpos=7"> Protein </a></li><li><a title="Link to Protein RefSeqs" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein_refseq&from_uid=2243128" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=2243128&ordinalpos=1&linkpos=8"> Protein (RefSeq) </a></li><li><a title="PubMed to SNP links" href="https://www.ncbi.nlm.nih.gov/snp?linkname=pubmed_snp&from_uid=2243128" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=2243128&ordinalpos=1&linkpos=9"> SNP </a></li></ul> </div> <div id="linkout" class="linkout"> <h2 class="title"> LinkOut - more resources </h2> <ul class="linkout-list"><li><h3 class="linkout-category">Full Text Sources</h3><ul class="linkout-category-links"><li><a href="https://doi.org/10.1172/JCI114869" target="_blank" rel="noopener" ref="linksrc=linkout_link&PrId=6619&uid=2243128&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=7802877" data-ga-category="link_out" data-ga-action="Full Text Sources" data-ga-label="American Society for Clinical Investigation" > American Society for Clinical Investigation </a></li><li><a href="https://europepmc.org/abstract/MED/2243128" target="_blank" rel="noopener" ref="linksrc=linkout_link&PrId=6082&uid=2243128&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=7802877" data-ga-category="link_out" data-ga-action="Full Text Sources" data-ga-label="Europe PubMed Central" > Europe PubMed Central 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Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria - PubMed