nih-gov/pubmed.ncbi.nlm.nih.gov/11317355/index.html

4637 lines
No EOL
190 KiB
HTML
Raw Permalink Blame History

This file contains ambiguous Unicode characters

This file contains Unicode characters that might be confused with other characters. If you think that this is intentional, you can safely ignore this warning. Use the Escape button to reveal them.

<!DOCTYPE html>
<html lang="en" >
<head itemscope itemtype="http://schema.org/WebPage" prefix="og: http://ogp.me/ns#" >
<meta charset="UTF-8">
<meta http-equiv="X-UA-Compatible" content="IE=edge">
<!-- Mobile properties -->
<meta name="HandheldFriendly" content="True">
<meta name="MobileOptimized" content="320">
<meta name="viewport" content="width=device-width, initial-scale=1.0">
<link rel="preconnect" href="https://cdn.ncbi.nlm.nih.gov">
<link rel="preconnect" href="https://www.ncbi.nlm.nih.gov">
<link rel="preconnect" href="https://www.google-analytics.com">
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.ba8099dd2df4.css" type="text/css">
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.452c70ce66f7.css" type="text/css">
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.7bf600913d6e.css" type="text/css">
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.0bfa59184c7a.css" type="text/css">
<title>Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population - PubMed</title>
<link rel="preload" as="font" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/uswds/dist/fonts/merriweather-bold-webfont.woff2" type="font/woff2" crossorigin />
<!-- Favicons -->
<link rel="shortcut icon" type="image/ico" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon.ico" />
<link rel="icon" type="image/png" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon.png" />
<!-- 192x192, as recommended for Android
http://updates.html5rocks.com/2014/11/Support-for-theme-color-in-Chrome-39-for-Android
-->
<link rel="icon" type="image/png" sizes="192x192" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-192.png" />
<!-- 57x57 (precomposed) for iPhone 3GS, pre-2011 iPod Touch and older Android devices -->
<link rel="apple-touch-icon-precomposed" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-57.png">
<!-- 72x72 (precomposed) for 1st generation iPad, iPad 2 and iPad mini -->
<link rel="apple-touch-icon-precomposed" sizes="72x72" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-72.png">
<!-- 114x114 (precomposed) for iPhone 4, 4S, 5 and post-2011 iPod Touch -->
<link rel="apple-touch-icon-precomposed" sizes="114x114" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-114.png">
<!-- 144x144 (precomposed) for iPad 3rd and 4th generation -->
<link rel="apple-touch-icon-precomposed" sizes="144x144" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-144.png">
<!-- For Pinger + Google Optimize integration (NS-820) -->
<meta name="ncbi_sg_optimize_id" content="">
<!-- Mobile browser address bar color -->
<meta name="theme-color" content="#20558a">
<!-- Preserve the Referrer when going from HTTPS to HTTP -->
<meta name="referrer" content="origin-when-cross-origin">
<meta name="ncbi_pinger_gtm_track" content="true"/>
<!-- Logging params: Pinger defaults -->
<meta name="ncbi_app" content="pubmed" />
<meta name="ncbi_db" content="pubmed" />
<meta name="ncbi_phid" content="CFA10001F781511500002E496FEE5445.1.m_6" />
<meta name="ncbi_pinger_stat_url" content="https://www.ncbi.nlm.nih.gov/stat" />
<meta name="log_category" content="literature" />
<meta name="ncbi_cost_center" content="pubmed" />
<!-- Logging params: Pinger custom -->
<meta name="ncbi_pdid" content="abstract" />
<meta name="log_op" content="retrieve" />
<meta name="uid" content="11317355" />
<meta name="ncbi_uid" content="11317355" />
<meta name="log_displayeduids" content="11317355" />
<meta name="log_source_db" content="pubmed" />
<meta name="log_icons_present" content="true" />
<meta name="ncbi_search_id" content="wJKfSRw_bScToi6ifrr3HA:7f7c4c66643e137ce97692ff8a9a94ea" />
<meta name="ncbi_adj_nav_search_id" content="C6zHIPxXe-NZXFlV9BNLgQ:4809b5cef86543398ef3511711f268ed" />
<!-- Social meta tags for unfurling urls -->
<meta name="description" content="The gene MCOLN1 is mutated in Mucolipidosis type IV (MLIV), a neurodegenerative, recessive, lysosomal storage disorder. The disease is found in relatively high frequency among Ashkenazi Jews due to two founder mutations that comprise 95% of the MLIV alleles in this population [Bargal et al., 2000]. …"><meta name="keywords" content="pmid:11317355, doi:10.1002/humu.1115, Research Support, Non-U.S. Gov&#x27;t, R Bargal, N Avidan, G Bach, Codon, Nonsense / genetics, CpG Islands / genetics, DNA Mutational Analysis, DNA Primers / genetics, Exons / genetics, Founder Effect, Gene Frequency / genetics, Genetic Predisposition to Disease / genetics, Genetic Testing, Haplotypes / genetics, Heterozygote, Humans, Jews / genetics*, Membrane Proteins / genetics*, Molecular Sequence Data, Mucolipidoses / classification, Mucolipidoses / epidemiology*, Mucolipidoses / genetics*, Mutagenesis, Insertional / genetics, Mutation / genetics*, Mutation, Missense / genetics, Polymerase Chain Reaction, TRPM Cation Channels, Transient Receptor Potential Channels, White People / 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="Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/11317355/"><meta property="og:description" content="The gene MCOLN1 is mutated in Mucolipidosis type IV (MLIV), a neurodegenerative, recessive, lysosomal storage disorder. The disease is found in relatively high frequency among Ashkenazi Jews due to two founder mutations that comprise 95% of the MLIV alleles in this population [Bargal et al., 2000]. …"><meta property="og:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:image:secure_url" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:type" content="website"><meta property="og:site_name" content="PubMed"><meta name="twitter:domain" content="pubmed.ncbi.nlm.nih.gov"><meta name="twitter:card" content="summary_large_image"><meta name="twitter:title" content="Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/11317355/"><meta name="twitter:description" content="The gene MCOLN1 is mutated in Mucolipidosis type IV (MLIV), a neurodegenerative, recessive, lysosomal storage disorder. The disease is found in relatively high frequency among Ashkenazi Jews due to two founder mutations that comprise 95% of the MLIV alleles in this population [Bargal et al., 2000]. …"><meta name="twitter:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg">
<!-- OpenSearch XML -->
<link rel="search" type="application/opensearchdescription+xml" href="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/opensearch.xml" title="PubMed search">
<!-- Disables severely broken elements when no JS -->
<noscript>
<link rel="stylesheet" type="text/css" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/core/no-script.css">
</noscript>
<meta name="citation_title" content="Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population">
<meta name="citation_authors" content="Bargal R;Avidan N;Olender T;Ben Asher E;Zeigler M;Raas-Rothschild A;Frumkin A;Ben-Yoseph O;Friedlender Y;Lancet D;Bach G;">
<meta name="citation_date" content="2001 May">
<meta name="citation_publisher" content="Hum Mutat">
<meta name="citation_journal_title" content="Human mutation">
<meta name="citation_pmid" content="11317355">
<meta name="citation_abstract_html_url" content="https://pubmed.ncbi.nlm.nih.gov/11317355/">
<meta name="citation_volume" content="17">
<meta name="citation_issue" content="5">
<meta name="citation_doi" content="10.1002/humu.1115">
<meta name="citation_issn" content="1098-1004">
<link rel="canonical" href="https://pubmed.ncbi.nlm.nih.gov/11317355/" />
</head>
<body >
<noscript>
<div class="no-script-banner" id="no-script-banner">
<div class="warning-message">
<div class="warning-message-text">
This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!
</div>
</div>
</div>
</noscript>
<div class="no-session-banner" id="no-session-banner" hidden>
<div class="warning-message">
<div class="warning-message-text">
Clipboard, Search History, and several other advanced features are temporarily unavailable.
</div>
<button class="close-banner-button"
title="Close Clipboard and Search History not available warning banner"
ref="linksrc=close_no_session_banner"
aria-controls="no-session-banner"
aria-label="Close Clipboard and Search History not available warning banner"
aria-expanded="true">
</button>
</div>
</div>
<a class="usa-skipnav" href="#article-details">
Skip to main page content
</a>
<!-- ========== BEGIN HEADER ========== -->
<section class="usa-banner">
<div class="usa-accordion">
<header class="usa-banner-header">
<div class="usa-grid usa-banner-inner">
<img src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/favicons/favicon-57.png" alt="U.S. flag" />
<p>An official website of the United States government</p>
<button
class="usa-accordion-button usa-banner-button"
aria-expanded="false"
aria-controls="gov-banner-top"
>
<span class="usa-banner-button-text">Here's how you know</span>
</button>
</div>
</header>
<div
class="usa-banner-content usa-grid usa-accordion-content"
id="gov-banner-top"
>
<div class="usa-banner-guidance-gov usa-width-one-half">
<img
class="usa-banner-icon usa-media_block-img"
src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-dot-gov.svg"
alt="Dot gov"
/>
<div class="usa-media_block-body">
<p>
<strong>The .gov means its official.</strong>
<br />
Federal government websites often end in .gov or .mil. Before
sharing sensitive information, make sure youre on a federal
government site.
</p>
</div>
</div>
<div class="usa-banner-guidance-ssl usa-width-one-half">
<img
class="usa-banner-icon usa-media_block-img"
src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-https.svg"
alt="Https"
/>
<div class="usa-media_block-body">
<p>
<strong>The site is secure.</strong>
<br />
The <strong>https://</strong> ensures that you are connecting to the
official website and that any information you provide is encrypted
and transmitted securely.
</p>
</div>
</div>
</div>
</div>
</section>
<div class="usa-overlay"></div>
<header class="ncbi-header" role="banner" data-section="Header">
<div class="usa-grid">
<div class="usa-width-one-whole">
<div class="ncbi-header__logo">
<a href="https://www.ncbi.nlm.nih.gov/" class="logo" aria-label="NCBI Logo" data-ga-action="click_image" data-ga-label="NIH NLM Logo">
<img src="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/logos/AgencyLogo.svg" alt="NIH NLM Logo" />
</a>
</div>
<div class="ncbi-header__account">
<a id="account_login" href="https://account.ncbi.nlm.nih.gov" class="usa-button header-button" style="display:none" data-ga-action="open_menu" data-ga-label="account_menu">Log in</a>
<button id="account_info" class="header-button" style="display:none"
aria-controls="account_popup">
<span class="fa fa-user" aria-hidden="true"></span>
<span class="username desktop-only" aria-hidden="true" id="uname_short"></span>
<span class="sr-only">Show account info</span>
</button>
</div>
<div class="ncbi-popup-anchor">
<div class="ncbi-popup account-popup" id="account_popup" aria-hidden="true">
<div class="ncbi-popup-head">
<button class="ncbi-close-button" data-ga-action="close_menu" data-ga-label="account_menu"><span class="fa fa-times"></span><span class="usa-sr-only">Close</span></button>
<h4>Account</h4>
</div>
<div class="account-user-info">
Logged in as:<br/>
<b><span class="username" id="uname_long">username</span></b>
</div>
<div class="account-links">
<ul class="usa-unstyled-list">
<li><a id="account_myncbi" href="/myncbi/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_myncbi">Dashboard</a></li>
<li><a id="account_pubs" href="/myncbi/collections/bibliography/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_pubs">Publications</a></li>
<li><a id="account_settings" href="/account/settings/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_settings">Account settings</a></li>
<li><a id="account_logout" href="/account/signout/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_logout">Log out</a></li>
</ul>
</div>
</div>
</div>
</div>
</div>
</header>
<div role="navigation" aria-label="access keys">
<a id="nws_header_accesskey_0" href="https://www.ncbi.nlm.nih.gov/guide/browsers/#ncbi_accesskeys" class="usa-sr-only" accesskey="0" tabindex="-1">Access keys</a>
<a id="nws_header_accesskey_1" href="https://www.ncbi.nlm.nih.gov" class="usa-sr-only" accesskey="1" tabindex="-1">NCBI Homepage</a>
<a id="nws_header_accesskey_2" href="/myncbi/" class="set-base-url usa-sr-only" accesskey="2" tabindex="-1">MyNCBI Homepage</a>
<a id="nws_header_accesskey_3" href="#maincontent" class="usa-sr-only" accesskey="3" tabindex="-1">Main Content</a>
<a id="nws_header_accesskey_4" href="#" class="usa-sr-only" accesskey="4" tabindex="-1">Main Navigation</a>
</div>
<section data-section="Alerts">
<div class="ncbi-alerts-placeholder"></div>
</section>
<!-- ========== END HEADER ========== -->
<a id="maincontent" aria-label="Main page content below" role="navigation"></a>
<input type="hidden" name="csrfmiddlewaretoken" value="CzMsQg0LzMyRZKIdPkEwJT6Jj2A1vGhxTmwxt6t79nllTbO3sDhyd1CnR6idohPR">
<form action="/" method="get" autocomplete="off" class="usa-search usa-search-big search-form content-page-layout" id="search-form" role="search">
<div class="inner-wrap">
<a class="pubmed-logo"
aria-label="Pubmed Logo"
href="/"
data-ga-category="featured_link"
data-ga-action="pubmed_logo">
<img src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/core/images/pubmed-logo-blue.svg" alt="pubmed logo" />
</a>
<a href="#" class="search-input-trigger" data-alt-title="Hide search bar" title="Show search bar" aria-label="Show search bar">
</a>
<div role="search" class="search-input">
<div class="form-field ">
<label class="usa-sr-only" for="id_term">
Search:
</label>
<input
type="search"
name="term"
data-skip-ie-scroll-to-top=""
data-replace-term-with-exact=""
data-exact-query=""
placeholder=""
class="term-input"
required="required"
id="id_term"/><a href="#" class="clear-btn" aria-label="Clear search input" title="Clear search input" role="button" data-pinger-ignore></a><button type="submit" class="search-btn" aria-label="Search" disabled data-pinger-ignore><span class="usa-search-submit-text">Search</span></button>
</div>
</div>
<!-- Create alert and Create RSS are buttons that look like links -->
<!-- Better for them to look like buttons but no space -->
<div class="search-links-wrapper content-page-layout">
<div class="search-links">
<a href="/advanced/"
class="search-input-link adv-search-link"
data-ga-category="featured_link"
data-ga-action="adv_search">Advanced</a>
<a href="/clipboard/"
class="search-input-link clipboard-link hidden"
data-ga-category="featured_link"
data-ga-action="clipboard">
Clipboard <span class="amount-in-clipboard"></span>
</a>
</div>
<span class="search-input-link user-guide-link" role="navigation" aria-label="User guide">
<a href="/help/"
data-ga-category="featured_link"
data-ga-action="user_guide">
User Guide
</a>
</span>
</div>
</div>
</form>
<div id="article-page-header">
<div id="article-top-actions-bar" class="article-top-actions-bar">
<div class="inner-wrap">
<div class="actions-container">
<div class="return-to-search">
</div>
<div class="multiple-results-actions " role="region" aria-label="save, email, send to">
<button id="save-results-panel-trigger"
type="button"
class="save-results save-results-panel-trigger"
aria-expanded="false"
aria-controls="save-action-panel"
data-ga-category="save_share"
data-ga-action="save"
data-ga-label="open">
Save
</button><button id="email-results-panel-trigger"
type="button"
class="email-results email-results-panel-trigger"
aria-expanded="false"
aria-controls="email-action-panel"
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="open">
Email
</button><div class="more-actions dropdown-block"><button id="more-actions-trigger"
type="button"
class="trigger more-actions-trigger"
ref="linksrc=show_moreactions_btn"
aria-label="Send to"
aria-controls="more-actions-dropdown">Send to</button><div id="more-actions-dropdown" class="dropdown dropdown-container" hidden><div class="content"><ul class="more-actions-links"><li><a class="clipboard-panel-trigger dropdown-block-link "
href="#"
role="button"
data-ga-category="save_share"
data-ga-action="clipboard"
data-ga-label="send">
Clipboard
</a></li><li><a role="button" class="dropdown-block-link bibliography-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F11317355%2F%23open-bibliography-panel">My Bibliography</a></li><li><a role="button" class="dropdown-block-link collections-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F11317355%2F%23open-collections-panel">Collections</a></li><li><a role="button" class="citation-manager-panel-trigger dropdown-block-link citation-manager-trigger-target" href="#">Citation manager</a></li></ul></div></div></div>
</div>
<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="article-display-format">
<option value="abstract">Abstract</option>
<option value="pubmed">PubMed</option>
<option value="pmid">PMID</option>
</select>
</div>
</div>
</div>
</div>
<input type="hidden" name="csrfmiddlewaretoken" value="CzMsQg0LzMyRZKIdPkEwJT6Jj2A1vGhxTmwxt6t79nllTbO3sDhyd1CnR6idohPR">
</div>
</div>
</div>
<div id="article-panels-container" class="article-panels-container">
<div id="save-action-panel" class="save-action-panel action-panel" aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Save citation to file
</h2>
<form id="save-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="CzMsQg0LzMyRZKIdPkEwJT6Jj2A1vGhxTmwxt6t79nllTbO3sDhyd1CnR6idohPR">
<div class="action-panel-control-wrap">
<label for="save-action-format" class="action-panel-label">
Format:
</label>
<select id="save-action-format" name="results-format" class="action-panel-selector">
<option value="summary-text">Summary (text)</option>
<option value="pubmed-text">PubMed</option>
<option value="pmid">PMID</option>
<option value="abstract">Abstract (text)</option>
<option value="csv">CSV</option>
</select>
</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="save"
data-ga-label="save">
Create file
</button>
<button class="action-panel-cancel"
aria-label="Close 'Save citations to file' panel"
ref="linksrc=close_save_panel"
aria-controls="save-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="save"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="email-action-panel"
class="email-action-panel action-panel"
aria-hidden="true"
data-recaptcha-script-url="https://www.recaptcha.net/recaptcha/enterprise.js?render=explicit&onload=onloadCaptchaCallback"
data-recaptcha-enabled="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Email citation
</h2>
<form id="email-action-panel-form"
class="action-panel-content action-form"
action="/send-email/"
data-by-search-action="/results-export-email-by-search-data/"
data-by-ids-action="/send-email/"
data-by-search-method="post"
data-by-ids-method="post"
method="post"
>
<input type="hidden" name="csrfmiddlewaretoken" value="CzMsQg0LzMyRZKIdPkEwJT6Jj2A1vGhxTmwxt6t79nllTbO3sDhyd1CnR6idohPR">
<div class="action-panel-control-wrap">
<span class="action-panel-label">
Subject:
</span>
<span class="email-subject" id="email-subject" aria-label="Email subject">1 selected item: 11317355 - PubMed</span>
<input type="hidden" name="email-subject" value="1 selected item: 11317355"/>
<input type="hidden" name="email-subject-hash" value="972c42a1052c3c0ce047e21197d92f2dacf05dbd2c384d519f2c7b41493ba178"/>
</div>
<div class="action-panel-control-wrap">
<label for="email-to" class="action-panel-label required-field-asterisk">
To:
</label>
<input type="email" aria-label="Recipient Email Address" placeholder="email@example.com" id="email-to" class="email-to" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="100" required>
</div>
<div class="action-panel-control-wrap">
<label for="email-from" class="action-panel-label">
From:
</label>
<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
</div>
<div class="action-panel-control-wrap">
<label for="email-citation-format" class="action-panel-label">
Format:
</label>
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
<option selected="selected" value="summary">Summary</option>
<option value="summary-text">Summary (text)</option>
<option value="abstract">Abstract</option>
<option value="abstract-text">Abstract (text)</option>
</select>
</div>
<div class="include-supplemental-container">
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
</div>
<div class="form-field recaptcha ">
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
</div>
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Sending..."
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="send">
Send email
</button>
<button class="action-panel-cancel"
aria-label="Close 'Email citations' panel"
ref="linksrc=close_email_panel"
aria-controls="email-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="cancel">
Cancel
</button>
</div>
<input type="hidden" name="email-search-details" value="" />
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
</form>
</div>
</div>
<div id="collections-action-panel"
class="collections-action-panel action-panel in-progress-dots-panel"
aria-hidden="true"
data-collections-open-panel-enabled="false"
data-collections-open-panel-url-hash="#open-collections-panel">
<div class="inner-wrap">
<h3 class="action-panel-heading">
Add to Collections
</h3>
<form id="collections-action-panel-form"
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-existing-collections-url="/list-existing-collections/"
data-add-to-existing-collection-url="/add-to-existing-collection/"
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
data-myncbi-max-collection-name-length="100"
data-add-to-collection-max-amount="1000"
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
<input type="hidden" name="csrfmiddlewaretoken" value="CzMsQg0LzMyRZKIdPkEwJT6Jj2A1vGhxTmwxt6t79nllTbO3sDhyd1CnR6idohPR">
<div class="choice-group" role="radiogroup">
<ul class="radio-group-items">
<li>
<input type="radio"
id="collections-action-panel-new"
class="collections-new"
name="collections"
value="new"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_new">
<label for="collections-action-panel-new">Create a 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="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
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="CzMsQg0LzMyRZKIdPkEwJT6Jj2A1vGhxTmwxt6t79nllTbO3sDhyd1CnR6idohPR">
<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="CzMsQg0LzMyRZKIdPkEwJT6Jj2A1vGhxTmwxt6t79nllTbO3sDhyd1CnR6idohPR">
<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="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</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="CzMsQg0LzMyRZKIdPkEwJT6Jj2A1vGhxTmwxt6t79nllTbO3sDhyd1CnR6idohPR">
<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="CzMsQg0LzMyRZKIdPkEwJT6Jj2A1vGhxTmwxt6t79nllTbO3sDhyd1CnR6idohPR">
<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="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</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="11317355">
<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"
href="https://doi.org/10.1002/humu.1115"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=False&amp;PrId=3058&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=11317355&amp;db=pubmed&amp;nlmid=9215429"
title="See full text options at Wiley"
data-ga-category="full_text"
data-ga-action="Wiley"
data-ga-label="11317355"
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--media.wiley.com-assets-7388-69-wiley-full-text.png" alt="Wiley full text link"><span class="text">
Wiley
</span></a>
</div>
</div>
<div class="short-view">
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
Full text links
</a>
</div>
</div>
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><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="/11317355/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/11317355/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="11317355" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
aria-label="Save article in MyNCBI collections."
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_button"
data-collections-open-dialog-enabled="false"
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F11317355%2F%23open-collections-dialog"
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
class="dialog collections-dialog"
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-existing-collections-url="/list-existing-collections/"
data-add-to-existing-collection-url="/add-to-existing-collection/"
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
data-myncbi-max-collection-name-length="100"
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="CzMsQg0LzMyRZKIdPkEwJT6Jj2A1vGhxTmwxt6t79nllTbO3sDhyd1CnR6idohPR"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
id="collections-action-dialog-new"
class="collections-new"
name="collections"
value="new"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
id="collections-action-dialog-existing"
class="collections-existing"
name="collections"
value="existing"
checked="true"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-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-dialog-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-dialog-add-to-new"
class="collections-action-add-to-new"
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
maxlength="100"
data-ga-category="collections_button"
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-dialog-add-to-existing" class="action-panel-label">
Choose a collection:
</label><select id="collections-action-dialog-add-to-existing"
class="action-panel-selector collections-action-add-to-existing"
data-ga-category="collections_button"
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="collections_button"
data-ga-action="click"
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="collections_button"
data-ga-action="click"
data-ga-label="cancel">
Cancel
</button></div></form></div></div></div></div><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="sidebar-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="social-sharing">
<h3 class="title">
Share
</h3>
<ul class="social-sharing-links usa-unstyled-list">
<li>
<a href="http://twitter.com/intent/tweet?text=Mucolipidosis%20type%20IV%3A%20novel%20MCOLN1%20mutations%20in%20Jewish%20and%20non-Jewish%20patients%20and%20the%20frequency%20of%20the%20disease%20in%E2%80%A6%20https%3A//pubmed.ncbi.nlm.nih.gov/11317355/"
class="share-link share-link-twitter"
rel="noreferrer noopener"
target="Pubmed-Social-Media-Share-Popup"
title="Share article on Twitter"
data-ga-category="save_share"
data-ga-action="social"
data-ga-label="twitter"></a>
</li>
<li>
<a href="http://www.facebook.com/sharer/sharer.php?u=https%3A//pubmed.ncbi.nlm.nih.gov/11317355/"
class="share-link share-link-facebook"
rel="noreferrer noopener"
target="Pubmed-Social-Media-Share-Popup"
title="Share article on Facebook"
data-ga-category="save_share"
data-ga-action="social"
data-ga-label="fb"></a>
</li>
<li>
<div class="share-permalink">
<button class="trigger"
title="Show article permalink"
ref="linksrc=show_permalink_btn">
</button>
<div class="dropdown" hidden>
<div class="title">
Permalink
</div>
<div class="content">
<input type="text"
class="permalink-text"
value="https://pubmed.ncbi.nlm.nih.gov/11317355/"
aria-label="Article permalink"/><button class="permalink-copy-button usa-button-primary"
title="Copy article permalink"
data-ga-category="save_share"
data-ga-action="link"
data-ga-label="copy_link"><span class="button-title">Copy</span></button>
</div>
</div>
</div>
</li>
</ul>
</div>
<nav class="page-navigator" role="navigation" aria-label="Page navigation">
<div class="full-view">
<h3 class="title">
Page navigation
</h3>
<ul class="items-list">
<li class="heading ">
<a href="#heading"
aria-label="navigate to Title &amp; authors section"
data-ga-category="page_nav"
data-ga-action="heading">
Title &amp; authors
</a>
</li>
<li class="abstract ">
<a href="#abstract"
aria-label="navigate to Abstract section"
data-ga-category="page_nav"
data-ga-action="abstract">
Abstract
</a>
</li>
<li class="similar ">
<a href="#similar"
aria-label="navigate to Similar articles section"
data-ga-category="page_nav"
data-ga-action="similar">
Similar articles
</a>
</li>
<li class="citedby ">
<a href="#citedby"
aria-label="navigate to Cited by section"
data-ga-category="page_nav"
data-ga-action="citedby">
Cited by
</a>
</li>
<li class="publication-types ">
<a href="#publication-types"
aria-label="navigate to Publication types section"
data-ga-category="page_nav"
data-ga-action="publication-types">
Publication types
</a>
</li>
<li class="mesh-terms ">
<a href="#mesh-terms"
aria-label="navigate to MeSH terms section"
data-ga-category="page_nav"
data-ga-action="mesh-terms">
MeSH terms
</a>
</li>
<li class="substances ">
<a href="#substances"
aria-label="navigate to Substances section"
data-ga-category="page_nav"
data-ga-action="substances">
Substances
</a>
</li>
<li class="supplemental-data ">
<a href="#supplemental-data"
aria-label="navigate to Associated data section"
data-ga-category="page_nav"
data-ga-action="supplemental-data">
Associated data
</a>
</li>
<li class="related-links ">
<a href="#related-links"
aria-label="navigate to Related information section"
data-ga-category="page_nav"
data-ga-action="related-links">
Related information
</a>
</li>
<li class="linkout ">
<a href="#linkout"
aria-label="navigate to LinkOut - more resources section"
data-ga-category="page_nav"
data-ga-action="linkout">
LinkOut - more resources
</a>
</li>
</ul>
</div>
<select class="short-view" autocomplete="off" title="navigate to selected section" aria-label="Navigate to page section">
<option value="heading">Title &amp; authors</option>
<option value="abstract">Abstract</option>
<option value="similar">Similar articles</option>
<option value="citedby">Cited by</option>
<option value="publication-types">Publication types</option>
<option value="mesh-terms">MeSH terms</option>
<option value="substances">Substances</option>
<option value="supplemental-data">Associated data</option>
<option value="related-links">Related information</option>
<option value="linkout">LinkOut - more resources</option>
</select>
</nav>
</div>
</aside>
<main class="article-details" id="article-details">
<!-- "Filters applied" shows only when page is redirected from search -->
<!-- because search found one result -->
<header class="heading" id="heading">
<div class="full-view" id="full-view-heading">
<div class="article-citation">
<div class="article-source">
<div class="journal-actions dropdown-block"><button id="full-view-journal-trigger"
class="journal-actions-trigger trigger"
ref="linksrc=journal_actions_btn"
title="Human mutation"
tabindex="0"
aria-controls="full-view-journal"
aria-expanded="false"
aria-label="Toggle dropdown menu for journal Human mutation"
data-pinger-ignore>
Hum Mutat
</button><div id="full-view-journal"
class="journal-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for journal Human mutation"><div class="title">Actions</div><div class="content"><ul class="journal-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Hum+Mutat%22%5Bjour%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Hum+Mutat%22%5Bjour%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_journal_name_link&amp;journal_abbrev=Hum Mutat"
data-ga-category="search"
data-ga-action="journal_link"
data-ga-label="Hum Mutat">
Search in PubMed
</a></li><li><a class="search-in-nlm-catalog-link dropdown-block-link"
ref ="linksrc=search_in_nlm_catalog_link"
href="https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Hum+Mutat%22%5BTitle+Abbreviation%5D"
data-ga-category="search_catalog"
data-ga-action="journal_link"
data-ga-label="Hum Mutat">
Search in NLM Catalog
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref ="linksrc=add_to_search_link"
role="button"
data-search-term='"Hum Mutat"[jour]'
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label='"Hum Mutat"[jour]'
href="#">
Add to Search
</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2001 May;17(5):397-402.</span>
</div>
<span class="citation-doi">
doi: 10.1002/humu.1115.
</span>
</div>
<h1 class="heading-title">
Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population
</h1>
<div class="inline-authors">
<div class="authors">
<div class="authors-list">
<span class="authors-list-item "><a class="full-name"
href="/?term=Bargal+R&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="R Bargal">R Bargal</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Avidan+N&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="N Avidan">N Avidan</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Olender+T&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="T Olender">T Olender</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Ben+Asher+E&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="E Ben Asher">E Ben Asher</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Zeigler+M&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="M Zeigler">M Zeigler</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Raas-Rothschild+A&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="A Raas-Rothschild">A Raas-Rothschild</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Frumkin+A&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="A Frumkin">A Frumkin</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Ben-Yoseph+O&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="O Ben-Yoseph">O Ben-Yoseph</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Friedlender+Y&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Y Friedlender">Y Friedlender</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Lancet+D&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="D Lancet">D Lancet</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bach+G&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="G Bach">G Bach</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="/11317355/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> Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel.</li>
</ul>
</div>
</div>
</div>
<ul class="identifiers" id="full-view-identifiers">
<li>
<span class="identifier pubmed">
<span class="id-label">
PMID:
</span>
<strong class="current-id" title="PubMed ID">11317355</strong>
</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&amp;article_id=10.1002/humu.1115&amp;id_type=DOI"
href="https://doi.org/10.1002/humu.1115"
data-ga-category="full_text"
data-ga-action="DOI"
>
10.1002/humu.1115
</a>
</span>
</li>
</ul>
<div class="in-clipboard-label " hidden>
Item in Clipboard
</div>
</div>
<div class="short-view" id="short-view-heading">
<h1 class="heading-title">
Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population
</h1>
<div class="short-citation">
<span class="authors-list">
<span class="authors-list-item "><span class="full-name">R Bargal</span><span class="citation-separator">&nbsp;et al.</span></span>
</span>
<span class="citation-journal">
Hum Mutat<span class="citation-separator">.</span>
</span>
<span class="date">
<span class="citation-year">2001 May</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="/11317355/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"
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="mobile-display-format">
<option value="abstract">Abstract</option>
<option value="pubmed">PubMed</option>
<option value="pmid">PMID</option>
</select>
</div>
</div>
</div>
</div>
</div>
<div class="extended-article-details" id="full-article-details" aria-hidden="true">
<div class="article-citation">
<div class="article-source">
<div class="journal-actions dropdown-block"><button id="short-view-journal-trigger"
class="journal-actions-trigger trigger"
ref="linksrc=journal_actions_btn"
title="Human mutation"
tabindex="0"
aria-controls="short-view-journal"
aria-expanded="false"
aria-label="Toggle dropdown menu for journal Human mutation"
data-pinger-ignore>
Hum Mutat
</button><div id="short-view-journal"
class="journal-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for journal Human mutation"><div class="title">Actions</div><div class="content"><ul class="journal-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Hum+Mutat%22%5Bjour%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Hum+Mutat%22%5Bjour%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_journal_name_link&amp;journal_abbrev=Hum Mutat"
data-ga-category="search"
data-ga-action="journal_link"
data-ga-label="Hum Mutat">
Search in PubMed
</a></li><li><a class="search-in-nlm-catalog-link dropdown-block-link"
ref ="linksrc=search_in_nlm_catalog_link"
href="https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Hum+Mutat%22%5BTitle+Abbreviation%5D"
data-ga-category="search_catalog"
data-ga-action="journal_link"
data-ga-label="Hum Mutat">
Search in NLM Catalog
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref ="linksrc=add_to_search_link"
role="button"
data-search-term='"Hum Mutat"[jour]'
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label='"Hum Mutat"[jour]'
href="#">
Add to Search
</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2001 May;17(5):397-402.</span>
</div>
<span class="citation-doi">
doi: 10.1002/humu.1115.
</span>
</div>
<div class="expanded-authors" id="short-view-expanded-authors">
<div class="authors">
<h3 class="title">
Authors
</h3>
<div class="authors-list">
<span class="authors-list-item "><a class="full-name"
href="/?term=Bargal+R&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="R Bargal">R Bargal</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Avidan+N&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="N Avidan">N Avidan</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Olender+T&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="T Olender">T Olender</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Ben+Asher+E&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="E Ben Asher">E Ben Asher</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Zeigler+M&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="M Zeigler">M Zeigler</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Raas-Rothschild+A&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="A Raas-Rothschild">A Raas-Rothschild</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Frumkin+A&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="A Frumkin">A Frumkin</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Ben-Yoseph+O&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="O Ben-Yoseph">O Ben-Yoseph</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Friedlender+Y&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Y Friedlender">Y Friedlender</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Lancet+D&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="D Lancet">D Lancet</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bach+G&amp;cauthor_id=11317355"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="G Bach">G Bach</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> Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel.</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">11317355</strong>
</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&amp;article_id=10.1002/humu.1115&amp;id_type=DOI"
href="https://doi.org/10.1002/humu.1115"
data-ga-category="full_text"
data-ga-action="DOI"
>
10.1002/humu.1115
</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="/11317355/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/11317355/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>
The gene MCOLN1 is mutated in Mucolipidosis type IV (MLIV), a neurodegenerative, recessive, lysosomal storage disorder. The disease is found in relatively high frequency among Ashkenazi Jews due to two founder mutations that comprise 95% of the MLIV alleles in this population [Bargal et al., 2000]. In this report we complete the mutation analysis of Jewish and non-Jewish MLIV patients whose DNA were available to us. Four novel mutations were identified in the MCOLN1 gene of severely affected patients: two missense, T232P and F465L; a nonsense, R322X; and an 11-bp insertion in exon 12. The nonsense mutation (R322X) was identified in two unrelated patients with different haplotypes in the MCOLN1 chromosomal region, indicating a mutation hotspot in this CpG site. An in-frame deletion (F408del) was identified in a patient with unusual mild psychomotor retardation. The frequency of MLIV in the general Jewish Ashkenazi population was estimated in a sample of 2,000 anonymous, unrelated individuals assayed for the two founder mutations. This analysis indicated a heterozygotes frequency of about 1/100. A preferred nucleotide numbering system for MCOLN1 mutations is presented and the issue of a screening program for the detection of high-risk families in the Jewish Ashkenazi population is discussed.
</p>
</div>
</div>
<p class="copyright" id="copyright">
Copyright 2001 Wiley-Liss, Inc.
</p>
<p class="disclaimer" id="disclaimer">
<a href="/disclaimer/" target="_blank" data-ga-category="literature_resources"
data-ga-action="disclaimer_link" data-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="/16287144/"
ref="article_id=16287144&amp;linksrc=similar_articles_link&amp;ordinalpos=1"
data-ga-category="similar_article"
data-ga-action="16287144"
data-ga-label="">
The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Bach G, Webb MB, Bargal R, Zeigler M, Ekstein J.</span>
<span class="docsum-authors short-authors">Bach G, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Hum Mutat. 2005 Dec;26(6):591. doi: 10.1002/humu.9385.</span>
<span class="docsum-journal-citation short-journal-citation">Hum Mutat. 2005.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">16287144</span></span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/11845410/"
ref="article_id=11845410&amp;linksrc=similar_articles_link&amp;ordinalpos=2"
data-ga-category="similar_article"
data-ga-action="11845410"
data-ga-label="">
Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Edelmann L, Dong J, Desnick RJ, Kornreich R.</span>
<span class="docsum-authors short-authors">Edelmann L, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Am J Hum Genet. 2002 Apr;70(4):1023-7. doi: 10.1086/339519. Epub 2002 Feb 13.</span>
<span class="docsum-journal-citation short-journal-citation">Am J Hum Genet. 2002.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">11845410</span></span>
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/20159435/"
ref="article_id=20159435&amp;linksrc=similar_articles_link&amp;ordinalpos=3"
data-ga-category="similar_article"
data-ga-action="20159435"
data-ga-label="">
Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Geer JS, Skinner SA, Goldin E, Holden KR.</span>
<span class="docsum-authors short-authors">Geer JS, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Pediatr Neurol. 2010 Mar;42(3):223-6. doi: 10.1016/j.pediatrneurol.2009.10.002.</span>
<span class="docsum-journal-citation short-journal-citation">Pediatr Neurol. 2010.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">20159435</span></span>
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/11461186/"
ref="article_id=11461186&amp;linksrc=similar_articles_link&amp;ordinalpos=4"
data-ga-category="similar_article"
data-ga-action="11461186"
data-ga-label="">
Mucolipidosis type IV.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Bach G.</span>
<span class="docsum-authors short-authors">Bach G.</span>
<span class="docsum-journal-citation full-journal-citation">Mol Genet Metab. 2001 Jul;73(3):197-203. doi: 10.1006/mgme.2001.3195.</span>
<span class="docsum-journal-citation short-journal-citation">Mol Genet Metab. 2001.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">11461186</span></span>
<span class="publication-type spaced-citation-item citation-part">Review.</span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/12125810/"
ref="article_id=12125810&amp;linksrc=similar_articles_link&amp;ordinalpos=5"
data-ga-category="similar_article"
data-ga-action="12125810"
data-ga-label="">
The molecular basis of mucolipidosis type IV.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Slaugenhaupt SA.</span>
<span class="docsum-authors short-authors">Slaugenhaupt SA.</span>
<span class="docsum-journal-citation full-journal-citation">Curr Mol Med. 2002 Aug;2(5):445-50. doi: 10.2174/1566524023362276.</span>
<span class="docsum-journal-citation short-journal-citation">Curr Mol Med. 2002.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">12125810</span></span>
<span class="publication-type spaced-citation-item citation-part">Review.</span>
</div>
</div>
</li>
</ul>
<div class="actions-bar">
<a
class="show-all-linked-articles"
data-href="/?linkname=pubmed_pubmed&from_uid=11317355"
data-ga-category="similar_article"
data-ga-action="show_all"
>
See all similar articles
</a>
</div>
</div>
<div class="citedby-articles" id="citedby">
<h2 class="title">
Cited by
</h2>
<ul class="articles-list" id="citedby-articles-list">
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/11509994/"
ref="article_id=11509994&amp;linksrc=citedby_articles_link&amp;ordinalpos=1"
data-ga-category="cited_by"
data-ga-action="11509994"
data-ga-label="">
Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA.</span>
<span class="docsum-authors short-authors">Edelmann L, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Am J Hum Genet. 2001 Oct;69(4):863-8. doi: 10.1086/323677. Epub 2001 Aug 16.</span>
<span class="docsum-journal-citation short-journal-citation">Am J Hum Genet. 2001.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">11509994</span></span>
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/25668017/"
ref="article_id=25668017&amp;linksrc=citedby_articles_link&amp;ordinalpos=2"
data-ga-category="cited_by"
data-ga-action="25668017"
data-ga-label="">
Lysosomal physiology.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Xu H, Ren D.</span>
<span class="docsum-authors short-authors">Xu H, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Annu Rev Physiol. 2015;77:57-80. doi: 10.1146/annurev-physiol-021014-071649.</span>
<span class="docsum-journal-citation short-journal-citation">Annu Rev Physiol. 2015.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">25668017</span></span>
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
<span class="publication-type spaced-citation-item citation-part">Review.</span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/17384215/"
ref="article_id=17384215&amp;linksrc=citedby_articles_link&amp;ordinalpos=3"
data-ga-category="cited_by"
data-ga-action="17384215"
data-ga-label="">
Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Schrijver I, Külm M, Gardner PI, Pergament EP, Fiddler MB.</span>
<span class="docsum-authors short-authors">Schrijver I, et al.</span>
<span class="docsum-journal-citation full-journal-citation">J Mol Diagn. 2007 Apr;9(2):228-36. doi: 10.2353/jmoldx.2007.060100.</span>
<span class="docsum-journal-citation short-journal-citation">J Mol Diagn. 2007.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">17384215</span></span>
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/24116849/"
ref="article_id=24116849&amp;linksrc=citedby_articles_link&amp;ordinalpos=4"
data-ga-category="cited_by"
data-ga-action="24116849"
data-ga-label="">
Quality control gone wrong: mitochondria, lysosomal storage disorders and neurodegeneration.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Osellame LD, Duchen MR.</span>
<span class="docsum-authors short-authors">Osellame LD, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Br J Pharmacol. 2014 Apr;171(8):1958-72. doi: 10.1111/bph.12453.</span>
<span class="docsum-journal-citation short-journal-citation">Br J Pharmacol. 2014.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">24116849</span></span>
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
<span class="publication-type spaced-citation-item citation-part">Review.</span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/29030399/"
ref="article_id=29030399&amp;linksrc=citedby_articles_link&amp;ordinalpos=5"
data-ga-category="cited_by"
data-ga-action="29030399"
data-ga-label="">
Robust lysosomal calcium signaling through channel TRPML1 is impaired by lysosomal lipid accumulation.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Gómez NM, Lu W, Lim JC, Kiselyov K, Campagno KE, Grishchuk Y, Slaugenhaupt SA, Pfeffer BA, Fliesler SJ, Mitchell CH.</span>
<span class="docsum-authors short-authors">Gómez NM, et al.</span>
<span class="docsum-journal-citation full-journal-citation">FASEB J. 2018 Feb;32(2):782-794. doi: 10.1096/fj.201700220RR. Epub 2018 Jan 4.</span>
<span class="docsum-journal-citation short-journal-citation">FASEB J. 2018.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">29030399</span></span>
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
</div>
</div>
</li>
</ul>
<div class="actions-bar">
<a
class="show-all-linked-articles"
data-href="/?linkname=pubmed_pubmed_citedin&from_uid=11317355"
data-ga-category="cited_by"
data-ga-action="show_all"
>
See all "Cited by" articles
</a>
</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&#x27;t"
tabindex="0"
aria-controls="keyword-actions-publication-types-0"
aria-expanded="false"
data-pinger-ignore>
Research Support, Non-U.S. Gov&#x27;t
</button><div id="keyword-actions-publication-types-0"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Research Support, Non-U.S. Gov&#x27;t"><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=%22Research+Support%2C+Non-U.S.+Gov%27t%22%5Bpt%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Research+Support%2C+Non-U.S.+Gov%27t%22%5Bpt%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Research Support, Non-U.S. Gov&#x27;t&quot;[pt]"
data-ga-category="search"
data-ga-action="pub_type"
data-ga-label="Research Support, Non-U.S. Gov&#x27;t">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Research+Support%2C+Non-U.S.+Gov%27t"
data-ga-category="search_mesh"
data-ga-action="pub_type_link"
data-ga-label="Research Support, Non-U.S. Gov&#x27;t">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Research Support, Non-U.S. Gov&#x27;t&quot;[pt]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Research Support, Non-U.S. Gov&#x27;t&quot;[pt]"
href="#">
Add to Search
</a></li></ul></div></div></div></li></ul>
</div>
<div id="mesh-terms" class="mesh-terms keywords-section">
<h2 class="title">
MeSH terms
</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 Codon, Nonsense / genetics"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-0"
aria-expanded="false"
data-pinger-ignore>
Codon, Nonsense / genetics
</button><div id="keyword-actions-mesh-terms-0"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Codon, Nonsense / genetics"><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=%22Codon%2C+Nonsense%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Codon%2C+Nonsense%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Codon, Nonsense/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Codon, Nonsense / genetics">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Codon%2C+Nonsense"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Codon, Nonsense / genetics">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Codon, Nonsense/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Codon, Nonsense/genetics&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword CpG Islands / genetics"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-1"
aria-expanded="false"
data-pinger-ignore>
CpG Islands / genetics
</button><div id="keyword-actions-mesh-terms-1"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword CpG Islands / genetics"><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=%22CpG+Islands%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22CpG+Islands%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;CpG Islands/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="CpG Islands / genetics">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=CpG+Islands"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="CpG Islands / genetics">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;CpG Islands/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;CpG Islands/genetics&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword DNA Mutational Analysis"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-2"
aria-expanded="false"
data-pinger-ignore>
DNA Mutational Analysis
</button><div id="keyword-actions-mesh-terms-2"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword DNA Mutational Analysis"><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=%22DNA+Mutational+Analysis%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22DNA+Mutational+Analysis%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;DNA Mutational Analysis&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="DNA Mutational Analysis">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=DNA+Mutational+Analysis"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="DNA Mutational Analysis">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;DNA Mutational Analysis&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;DNA Mutational Analysis&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword DNA Primers / genetics"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-3"
aria-expanded="false"
data-pinger-ignore>
DNA Primers / genetics
</button><div id="keyword-actions-mesh-terms-3"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword DNA Primers / genetics"><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=%22DNA+Primers%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22DNA+Primers%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;DNA Primers/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="DNA Primers / genetics">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=DNA+Primers"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="DNA Primers / genetics">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;DNA Primers/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;DNA Primers/genetics&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Exons / genetics"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-4"
aria-expanded="false"
data-pinger-ignore>
Exons / genetics
</button><div id="keyword-actions-mesh-terms-4"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Exons / genetics"><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=%22Exons%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Exons%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Exons/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Exons / genetics">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Exons"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Exons / genetics">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Exons/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Exons/genetics&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Founder Effect"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-5"
aria-expanded="false"
data-pinger-ignore>
Founder Effect
</button><div id="keyword-actions-mesh-terms-5"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Founder Effect"><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=%22Founder+Effect%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Founder+Effect%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Founder Effect&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Founder Effect">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Founder+Effect"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Founder Effect">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Founder Effect&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Founder Effect&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Gene Frequency / genetics"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-6"
aria-expanded="false"
data-pinger-ignore>
Gene Frequency / genetics
</button><div id="keyword-actions-mesh-terms-6"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Gene Frequency / genetics"><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=%22Gene+Frequency%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Gene+Frequency%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Gene Frequency/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Gene Frequency / genetics">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Gene+Frequency"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Gene Frequency / genetics">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Gene Frequency/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Gene Frequency/genetics&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Genetic Predisposition to Disease / genetics"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-7"
aria-expanded="false"
data-pinger-ignore>
Genetic Predisposition to Disease / genetics
</button><div id="keyword-actions-mesh-terms-7"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Genetic Predisposition to Disease / genetics"><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=%22Genetic+Predisposition+to+Disease%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Genetic+Predisposition+to+Disease%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Genetic Predisposition to Disease/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Genetic Predisposition to Disease / genetics">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Genetic+Predisposition+to+Disease"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Genetic Predisposition to Disease / genetics">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Genetic Predisposition to Disease/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Genetic Predisposition to Disease/genetics&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Genetic Testing"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-8"
aria-expanded="false"
data-pinger-ignore>
Genetic Testing
</button><div id="keyword-actions-mesh-terms-8"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Genetic Testing"><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=%22Genetic+Testing%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Genetic+Testing%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Genetic Testing&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Genetic Testing">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Genetic+Testing"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Genetic Testing">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Genetic Testing&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Genetic Testing&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Haplotypes / genetics"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-9"
aria-expanded="false"
data-pinger-ignore>
Haplotypes / genetics
</button><div id="keyword-actions-mesh-terms-9"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Haplotypes / genetics"><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=%22Haplotypes%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Haplotypes%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Haplotypes/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Haplotypes / genetics">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Haplotypes"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Haplotypes / genetics">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Haplotypes/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Haplotypes/genetics&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Heterozygote"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-10"
aria-expanded="false"
data-pinger-ignore>
Heterozygote
</button><div id="keyword-actions-mesh-terms-10"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Heterozygote"><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=%22Heterozygote%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Heterozygote%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Heterozygote&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Heterozygote">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Heterozygote"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Heterozygote">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Heterozygote&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Heterozygote&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Humans"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-11"
aria-expanded="false"
data-pinger-ignore>
Humans
</button><div id="keyword-actions-mesh-terms-11"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Humans"><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=%22Humans%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Humans%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Humans&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Humans">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Humans"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Humans">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Humans&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Humans&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
aria-label="Toggle dropdown menu for keyword Jews / genetics*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-12"
aria-expanded="false"
data-pinger-ignore>
Jews / genetics*
</button><div id="keyword-actions-mesh-terms-major-12"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Jews / genetics*"><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=%22Jews%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Jews%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Jews/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Jews / genetics*">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Jews"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Jews / genetics*">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Jews/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Jews/genetics&quot;[MAJR]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
aria-label="Toggle dropdown menu for keyword Membrane Proteins / genetics*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-13"
aria-expanded="false"
data-pinger-ignore>
Membrane Proteins / genetics*
</button><div id="keyword-actions-mesh-terms-major-13"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Membrane Proteins / genetics*"><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=%22Membrane+Proteins%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Membrane+Proteins%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Membrane Proteins/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Membrane Proteins / genetics*">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Membrane+Proteins"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Membrane Proteins / genetics*">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Membrane Proteins/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Membrane Proteins/genetics&quot;[MAJR]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Molecular Sequence Data"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-14"
aria-expanded="false"
data-pinger-ignore>
Molecular Sequence Data
</button><div id="keyword-actions-mesh-terms-14"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Molecular Sequence Data"><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=%22Molecular+Sequence+Data%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Molecular+Sequence+Data%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Molecular Sequence Data&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Molecular Sequence Data">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Molecular+Sequence+Data"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Molecular Sequence Data">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Molecular Sequence Data&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Molecular Sequence Data&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Mucolipidoses / classification"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-15"
aria-expanded="false"
data-pinger-ignore>
Mucolipidoses / classification
</button><div id="keyword-actions-mesh-terms-15"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Mucolipidoses / classification"><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=%22Mucolipidoses%2Fclassification%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Mucolipidoses%2Fclassification%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Mucolipidoses/classification&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Mucolipidoses / classification">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Mucolipidoses"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Mucolipidoses / classification">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Mucolipidoses/classification&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Mucolipidoses/classification&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
aria-label="Toggle dropdown menu for keyword Mucolipidoses / epidemiology*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-16"
aria-expanded="false"
data-pinger-ignore>
Mucolipidoses / epidemiology*
</button><div id="keyword-actions-mesh-terms-major-16"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Mucolipidoses / epidemiology*"><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=%22Mucolipidoses%2Fepidemiology%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Mucolipidoses%2Fepidemiology%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Mucolipidoses/epidemiology&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Mucolipidoses / epidemiology*">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Mucolipidoses"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Mucolipidoses / epidemiology*">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Mucolipidoses/epidemiology&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Mucolipidoses/epidemiology&quot;[MAJR]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
aria-label="Toggle dropdown menu for keyword Mucolipidoses / genetics*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-17"
aria-expanded="false"
data-pinger-ignore>
Mucolipidoses / genetics*
</button><div id="keyword-actions-mesh-terms-major-17"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Mucolipidoses / genetics*"><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=%22Mucolipidoses%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Mucolipidoses%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Mucolipidoses/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Mucolipidoses / genetics*">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Mucolipidoses"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Mucolipidoses / genetics*">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Mucolipidoses/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Mucolipidoses/genetics&quot;[MAJR]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Mutagenesis, Insertional / genetics"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-18"
aria-expanded="false"
data-pinger-ignore>
Mutagenesis, Insertional / genetics
</button><div id="keyword-actions-mesh-terms-18"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Mutagenesis, Insertional / genetics"><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=%22Mutagenesis%2C+Insertional%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Mutagenesis%2C+Insertional%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Mutagenesis, Insertional/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Mutagenesis, Insertional / genetics">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Mutagenesis%2C+Insertional"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Mutagenesis, Insertional / genetics">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Mutagenesis, Insertional/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Mutagenesis, Insertional/genetics&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
aria-label="Toggle dropdown menu for keyword Mutation / genetics*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-19"
aria-expanded="false"
data-pinger-ignore>
Mutation / genetics*
</button><div id="keyword-actions-mesh-terms-major-19"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Mutation / genetics*"><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=%22Mutation%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Mutation%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Mutation/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Mutation / genetics*">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Mutation"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Mutation / genetics*">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Mutation/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Mutation/genetics&quot;[MAJR]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Mutation, Missense / genetics"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-20"
aria-expanded="false"
data-pinger-ignore>
Mutation, Missense / genetics
</button><div id="keyword-actions-mesh-terms-20"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Mutation, Missense / genetics"><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=%22Mutation%2C+Missense%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Mutation%2C+Missense%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Mutation, Missense/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Mutation, Missense / genetics">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Mutation%2C+Missense"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Mutation, Missense / genetics">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Mutation, Missense/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Mutation, Missense/genetics&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Polymerase Chain Reaction"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-21"
aria-expanded="false"
data-pinger-ignore>
Polymerase Chain Reaction
</button><div id="keyword-actions-mesh-terms-21"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Polymerase Chain Reaction"><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=%22Polymerase+Chain+Reaction%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Polymerase+Chain+Reaction%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Polymerase Chain Reaction&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Polymerase Chain Reaction">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Polymerase+Chain+Reaction"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Polymerase Chain Reaction">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Polymerase Chain Reaction&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Polymerase Chain Reaction&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword TRPM Cation Channels"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-22"
aria-expanded="false"
data-pinger-ignore>
TRPM Cation Channels
</button><div id="keyword-actions-mesh-terms-22"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword TRPM Cation Channels"><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=%22TRPM+Cation+Channels%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22TRPM+Cation+Channels%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;TRPM Cation Channels&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="TRPM Cation Channels">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=TRPM+Cation+Channels"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="TRPM Cation Channels">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;TRPM Cation Channels&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;TRPM Cation Channels&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Transient Receptor Potential Channels"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-23"
aria-expanded="false"
data-pinger-ignore>
Transient Receptor Potential Channels
</button><div id="keyword-actions-mesh-terms-23"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Transient Receptor Potential Channels"><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=%22Transient+Receptor+Potential+Channels%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Transient+Receptor+Potential+Channels%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Transient Receptor Potential Channels&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Transient Receptor Potential Channels">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Transient+Receptor+Potential+Channels"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Transient Receptor Potential Channels">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Transient Receptor Potential Channels&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Transient Receptor Potential Channels&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
aria-label="Toggle dropdown menu for keyword White People / genetics*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-24"
aria-expanded="false"
data-pinger-ignore>
White People / genetics*
</button><div id="keyword-actions-mesh-terms-major-24"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword White People / genetics*"><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=%22White+People%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22White+People%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;White People/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="White People / genetics*">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=White+People"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="White People / genetics*">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;White People/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;White People/genetics&quot;[MAJR]"
href="#">
Add to Search
</a></li></ul></div></div></div></li></ul>
</div>
<div id="substances" class="substances keywords-section">
<h2 class="title">
Substances
</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 Codon, Nonsense"
tabindex="0"
aria-controls="keyword-actions-substances-0"
aria-expanded="false"
data-pinger-ignore>
Codon, Nonsense
</button><div id="keyword-actions-substances-0"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Codon, Nonsense"><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=%22Codon%2C+Nonsense%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Codon%2C+Nonsense%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Codon, Nonsense&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="Codon, Nonsense">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Codon%2C+Nonsense%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="Codon, Nonsense">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Codon, Nonsense&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Codon, Nonsense&quot;[nm]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword DNA Primers"
tabindex="0"
aria-controls="keyword-actions-substances-1"
aria-expanded="false"
data-pinger-ignore>
DNA Primers
</button><div id="keyword-actions-substances-1"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword DNA Primers"><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=%22DNA+Primers%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22DNA+Primers%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;DNA Primers&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="DNA Primers">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22DNA+Primers%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="DNA Primers">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;DNA Primers&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;DNA Primers&quot;[nm]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword MCOLN1 protein, human"
tabindex="0"
aria-controls="keyword-actions-substances-2"
aria-expanded="false"
data-pinger-ignore>
MCOLN1 protein, human
</button><div id="keyword-actions-substances-2"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword MCOLN1 protein, human"><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=%22MCOLN1+protein%2C+human%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22MCOLN1+protein%2C+human%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;MCOLN1 protein, human&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="MCOLN1 protein, human">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22MCOLN1+protein%2C+human%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="MCOLN1 protein, human">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;MCOLN1 protein, human&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;MCOLN1 protein, human&quot;[nm]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Membrane Proteins"
tabindex="0"
aria-controls="keyword-actions-substances-3"
aria-expanded="false"
data-pinger-ignore>
Membrane Proteins
</button><div id="keyword-actions-substances-3"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Membrane Proteins"><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=%22Membrane+Proteins%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Membrane+Proteins%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Membrane Proteins&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="Membrane Proteins">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Membrane+Proteins%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="Membrane Proteins">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Membrane Proteins&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Membrane Proteins&quot;[nm]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword TRPM Cation Channels"
tabindex="0"
aria-controls="keyword-actions-substances-4"
aria-expanded="false"
data-pinger-ignore>
TRPM Cation Channels
</button><div id="keyword-actions-substances-4"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword TRPM Cation Channels"><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=%22TRPM+Cation+Channels%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22TRPM+Cation+Channels%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;TRPM Cation Channels&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="TRPM Cation Channels">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22TRPM+Cation+Channels%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="TRPM Cation Channels">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;TRPM Cation Channels&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;TRPM Cation Channels&quot;[nm]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Transient Receptor Potential Channels"
tabindex="0"
aria-controls="keyword-actions-substances-5"
aria-expanded="false"
data-pinger-ignore>
Transient Receptor Potential Channels
</button><div id="keyword-actions-substances-5"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Transient Receptor Potential Channels"><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=%22Transient+Receptor+Potential+Channels%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Transient+Receptor+Potential+Channels%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Transient Receptor Potential Channels&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="Transient Receptor Potential Channels">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Transient+Receptor+Potential+Channels%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="Transient Receptor Potential Channels">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Transient Receptor Potential Channels&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Transient Receptor Potential Channels&quot;[nm]"
href="#">
Add to Search
</a></li></ul></div></div></div></li></ul>
</div>
<div id="supplemental-data" class="supplemental-data">
<h2 class="title">
Associated data
</h2>
<ul class="supplemental-data-list"><li><div class="supplemental-data-actions dropdown-block"><button class="supplemental-data-actions-trigger trigger"
title="Supplemental Data Dropdown Toggle"
ref="linksrc=supplemental_data_actions_btn"
tabindex="0"
aria-controls="supplemental-data-GENBANK-AF249319"
aria-describedby="supplemental-data-GENBANK-AF249319"
data-pinger-ignore>
GENBANK/AF249319
</button><div id="supplemental-data-GENBANK-AF249319"
class="supplemental-data-actions-dropdown dropdown dropdown-container"
hidden
aria-label="GENBANK/AF249319"><div class="title">Actions</div><div class="content"><ul class="supplemental-data-actions-links"><li><a class="dropdown-block-link"
title="Search in PubMed"
href="/?term=AF249319%5BSecondary+Source+ID%5D"
ref="linksrc=ssid_link"
data-ga-category="search"
data-ga-action="data"
data-ga-label="AF249319[Secondary Source ID]">
Search in PubMed
</a></li><li><a class="dropdown-block-link"
title="Search in Nucleotide"
href="https://www.ncbi.nlm.nih.gov/nucleotide?term=AF249319"
ref="linksrc=ssid_link"
data-ga-category="search"
data-ga-action="data"
data-ga-label="None">
Search in Nucleotide
</a></li></ul></div></div></div></li><li><div class="supplemental-data-actions dropdown-block"><button class="supplemental-data-actions-trigger trigger"
title="Supplemental Data Dropdown Toggle"
ref="linksrc=supplemental_data_actions_btn"
tabindex="0"
aria-controls="supplemental-data-GENBANK-AF287270"
aria-describedby="supplemental-data-GENBANK-AF287270"
data-pinger-ignore>
GENBANK/AF287270
</button><div id="supplemental-data-GENBANK-AF287270"
class="supplemental-data-actions-dropdown dropdown dropdown-container"
hidden
aria-label="GENBANK/AF287270"><div class="title">Actions</div><div class="content"><ul class="supplemental-data-actions-links"><li><a class="dropdown-block-link"
title="Search in PubMed"
href="/?term=AF287270%5BSecondary+Source+ID%5D"
ref="linksrc=ssid_link"
data-ga-category="search"
data-ga-action="data"
data-ga-label="AF287270[Secondary Source ID]">
Search in PubMed
</a></li><li><a class="dropdown-block-link"
title="Search in Nucleotide"
href="https://www.ncbi.nlm.nih.gov/nucleotide?term=AF287270"
ref="linksrc=ssid_link"
data-ga-category="search"
data-ga-action="data"
data-ga-label="None">
Search in Nucleotide
</a></li></ul></div></div></div></li></ul>
</div>
<div id="related-links" class="related-links">
<h2 class="title">
Related information
</h2>
<ul class="related-links-list"><li><a title="PubMed links associated with Books" href="https://www.ncbi.nlm.nih.gov/books?linkname=pubmed_books_refs&amp;from_uid=11317355"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=11317355&ordinalpos=1&linkpos=1">
Cited in Books
</a></li><li><a title="Clinical variations associated with publication" href="https://www.ncbi.nlm.nih.gov/clinvar?linkname=pubmed_clinvar&amp;from_uid=11317355"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=11317355&ordinalpos=1&linkpos=2">
ClinVar
</a></li><li><a title="Link to related CDD entry" href="https://www.ncbi.nlm.nih.gov/cdd?linkname=pubmed_cdd&amp;from_uid=11317355"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=11317355&ordinalpos=1&linkpos=3">
Domains
</a></li><li><a title="Link to related Genes" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene&amp;from_uid=11317355"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=11317355&ordinalpos=1&linkpos=4">
Gene
</a></li><li><a title="Link to Gene for the GeneRIF subcategory" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene_rif&amp;from_uid=11317355"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=11317355&ordinalpos=1&linkpos=5">
Gene (GeneRIF)
</a></li><li><a title="Related information in MedGen" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen&amp;from_uid=11317355"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=11317355&ordinalpos=1&linkpos=6">
MedGen
</a></li><li><a title="Related records in MedGen based on citations in GeneReviews and Medical Genetics Summaries" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen_bookshelf_cited&amp;from_uid=11317355"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=11317355&ordinalpos=1&linkpos=7">
MedGen (Bookshelf cited)
</a></li><li><a title="Related information in MedGen (OMIM)" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen_omim&amp;from_uid=11317355"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=11317355&ordinalpos=1&linkpos=8">
MedGen (OMIM)
</a></li><li><a title="OMIM (cited) Links" href="https://www.ncbi.nlm.nih.gov/omim?linkname=pubmed_omim_cited&amp;from_uid=11317355"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=11317355&ordinalpos=1&linkpos=9">
OMIM (cited)
</a></li><li><a title="Published protein sequences" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein&amp;from_uid=11317355"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=11317355&ordinalpos=1&linkpos=10">
Protein
</a></li><li><a title="Link to Protein RefSeqs" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein_refseq&amp;from_uid=11317355"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=11317355&ordinalpos=1&linkpos=11">
Protein (RefSeq)
</a></li><li><a title="PubMed to SNP links" href="https://www.ncbi.nlm.nih.gov/snp?linkname=pubmed_snp&amp;from_uid=11317355"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=11317355&ordinalpos=1&linkpos=12">
SNP
</a></li></ul>
</div>
<div id="linkout" class="linkout">
<h2 class="title">
LinkOut - more resources
</h2>
<ul class="linkout-list"><li><h3 class="linkout-category">Full Text Sources</h3><ul class="linkout-category-links"><li><a
href="https://doi.org/10.1002/humu.1115"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=3058&uid=11317355&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=9215429"
data-ga-category="link_out"
data-ga-action="Full Text Sources"
data-ga-label="Wiley"
>
Wiley
</a></li></ul></li><li><h3 class="linkout-category">Molecular Biology Databases</h3><ul class="linkout-category-links"><li><a
href="https://glygen.org/publication/PubMed/11317355/"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=10227&uid=11317355&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=9215429"
data-ga-category="link_out"
data-ga-action="Molecular Biology Databases"
data-ga-label="GlyGen glycoinformatics resource"
>
GlyGen glycoinformatics resource
</a></li></ul></li></ul>
</div>
</main>
<div class="overlay" role="dialog" aria-label="Full Text Links Dialog">
<div id="full-text-links-dialog" class="dialog full-text-links-dialog">
<strong class="title">Full text links</strong>
<button class="close-overlay" tabindex="2">[x]</button>
<div class="full-text-links-list">
<a class="link-item
dialog-focus"
href="https://doi.org/10.1002/humu.1115"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=False&amp;PrId=3058&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=11317355&amp;db=pubmed&amp;nlmid=9215429"
title="See full text options at Wiley"
tabindex="1"
data-ga-category="full_text"
data-ga-action="Wiley"
data-ga-label="11317355"
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--media.wiley.com-assets-7388-69-wiley-full-text.png" alt="Wiley full text link"><span class="text">
Wiley
</span></a>
</div>
</div>
</div>
<div class="overlay" role="dialog" aria-label="Citation Dialog">
<div class="dialog citation-dialog">
<button class="close-overlay" tabindex="1">[x]</button>
<div class="title">Cite</div>
<div class="citation-text-block">
<div class="citation-text"></div>
<div class="citation-actions">
<button
class="copy-button dialog-focus"
data-ga-category="save_share"
data-ga-action="cite"
data-ga-label="copy"
tabindex="2">
Copy
</button>
<form method="post">
<input type="hidden" name="csrfmiddlewaretoken" value="CzMsQg0LzMyRZKIdPkEwJT6Jj2A1vGhxTmwxt6t79nllTbO3sDhyd1CnR6idohPR">
<button type="submit"
class="export-button"
data-ga-category="save_share"
data-ga-action="cite"
data-ga-label="download"
title="Download a file for external citation management software"
tabindex="3">
<span class="download-title">Download .nbib</span>
<span class="download-title-mobile">.nbib</span>
</button>
</form>
<div class="citation-style-selector-wrapper">
<label class="selector-label">Format:</label>
<select aria-label="Format" class="citation-style-selector" tabindex="4">
<option data-style-url-name="ama"
value="AMA"
>
AMA
</option>
<option data-style-url-name="apa"
value="APA"
>
APA
</option>
<option data-style-url-name="mla"
value="MLA"
>
MLA
</option>
<option data-style-url-name="nlm"
value="NLM"
selected="selected">
NLM
</option>
</select>
</div>
</div>
</div>
</div>
</div>
<div class="overlay" role="dialog" aria-label="More Actions Dialog">
<div id="more-actions-dialog" class="dialog more-actions-dialog">
<strong class="title">Send To</strong>
<ul class="more-actions-links">
<li><a id="clipboard-trigger" role="button" class="submit-button clipboard-trigger clipboard-trigger-target dialog-focus link-item " href="#">Clipboard</a></li>
<li><a class="email-trigger link-item" role="button" href="#">Email</a></li>
<li><a class="save-trigger link-item" role="button" href="#">Save</a></li>
<li><a class="link-item" role="button" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F11317355%2F%23open-bibliography-panel">My Bibliography</a></li>
<li><a class="link-item" role="button" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F11317355%2F%23open-collections-panel">Collections</a></li>
<li><a class="citation-manager-trigger link-item" role="button" href="#">Citation Manager</a></li>
</ul>
<button class="close-overlay">[x]</button>
</div>
</div>
</div>
<div id="ncbi-footer">
<div class="literature-footer" role="complementary" title="Links to NCBI Literature Resources">
<div class="usa-grid">
<p class="literature-footer-text">NCBI Literature Resources</p>
<p class="literature-footer-text">
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh/">MeSH</a>
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="pmc_link" href="https://www.ncbi.nlm.nih.gov/pmc/">PMC</a>
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="bookshelf_link" href="https://www.ncbi.nlm.nih.gov/books">Bookshelf</a>
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="disclaimer_link" href="/disclaimer/">Disclaimer</a>
</p>
<p class="literature-footer-text attribution-statement">The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Unauthorized use of these marks is strictly prohibited.</p>
</div>
</div>
<!-- ========== BEGIN FOOTER ========== -->
<footer>
<section class="icon-section">
<div id="icon-section-header" class="icon-section_header">Follow NCBI</div>
<div class="grid-container container">
<div class="icon-section_container">
<a class="footer-icon" id="footer_twitter" href="https://twitter.com/ncbi" aria-label="Twitter">
<svg width="40" height="40" viewBox="0 0 40 37" fill="none" xmlns="http://www.w3.org/2000/svg">
<title>Twitter</title>
<g id="twitterx1008">
<path id="path1008"
d="M6.06736 7L16.8778 20.8991L6.00001 32.2H10.2L18.6 23.1L25.668 32.2H34L22.8 17.5L31.9 7H28.4L20.7 15.4L14.401 7H6.06898H6.06736ZM9.66753 8.73423H12.9327L29.7327 30.4658H26.5697L9.66753 8.73423Z"
fill="#5B616B"/>
</g>
</svg>
</a>
<a class="footer-icon" id="footer_facebook" href="https://www.facebook.com/ncbi.nlm" aria-label="Facebook"><svg
data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300">
<title>Facebook</title>
<path class="cls-11"
d="M210.5,115.12H171.74V97.82c0-8.14,5.39-10,9.19-10h27.14V52l-39.32-.12c-35.66,0-42.42,26.68-42.42,43.77v19.48H99.09v36.32h27.24v109h45.41v-109h35Z">
</path>
</svg></a>
<a class="footer-icon" id="footer_linkedin"
href="https://www.linkedin.com/company/ncbinlm"
aria-label="LinkedIn"><svg data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300">
<title>LinkedIn</title>
<path class="cls-11"
d="M101.64,243.37H57.79v-114h43.85Zm-22-131.54h-.26c-13.25,0-21.82-10.36-21.82-21.76,0-11.65,8.84-21.15,22.33-21.15S101.7,78.72,102,90.38C102,101.77,93.4,111.83,79.63,111.83Zm100.93,52.61A17.54,17.54,0,0,0,163,182v61.39H119.18s.51-105.23,0-114H163v13a54.33,54.33,0,0,1,34.54-12.66c26,0,44.39,18.8,44.39,55.29v58.35H198.1V182A17.54,17.54,0,0,0,180.56,164.44Z">
</path>
</svg></a>
<a class="footer-icon" id="footer_github" href="https://github.com/ncbi" aria-label="GitHub"><svg
data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300">
<defs>
<style>
.cls-11,
.cls-12 {
fill: #737373;
}
.cls-11 {
fill-rule: evenodd;
}
</style>
</defs>
<title>GitHub</title>
<path class="cls-11"
d="M151.36,47.28a105.76,105.76,0,0,0-33.43,206.1c5.28,1,7.22-2.3,7.22-5.09,0-2.52-.09-10.85-.14-19.69-29.42,6.4-35.63-12.48-35.63-12.48-4.81-12.22-11.74-15.47-11.74-15.47-9.59-6.56.73-6.43.73-6.43,10.61.75,16.21,10.9,16.21,10.9,9.43,16.17,24.73,11.49,30.77,8.79,1-6.83,3.69-11.5,6.71-14.14C108.57,197.1,83.88,188,83.88,147.51a40.92,40.92,0,0,1,10.9-28.39c-1.1-2.66-4.72-13.42,1-28,0,0,8.88-2.84,29.09,10.84a100.26,100.26,0,0,1,53,0C198,88.3,206.9,91.14,206.9,91.14c5.76,14.56,2.14,25.32,1,28a40.87,40.87,0,0,1,10.89,28.39c0,40.62-24.74,49.56-48.29,52.18,3.79,3.28,7.17,9.71,7.17,19.58,0,14.15-.12,25.54-.12,29,0,2.82,1.9,6.11,7.26,5.07A105.76,105.76,0,0,0,151.36,47.28Z">
</path>
<path class="cls-12"
d="M85.66,199.12c-.23.52-1.06.68-1.81.32s-1.2-1.06-.95-1.59,1.06-.69,1.82-.33,1.21,1.07.94,1.6Zm-1.3-1">
</path>
<path class="cls-12"
d="M90,203.89c-.51.47-1.49.25-2.16-.49a1.61,1.61,0,0,1-.31-2.19c.52-.47,1.47-.25,2.17.49s.82,1.72.3,2.19Zm-1-1.08">
</path>
<path class="cls-12"
d="M94.12,210c-.65.46-1.71,0-2.37-.91s-.64-2.07,0-2.52,1.7,0,2.36.89.65,2.08,0,2.54Zm0,0"></path>
<path class="cls-12"
d="M99.83,215.87c-.58.64-1.82.47-2.72-.41s-1.18-2.06-.6-2.7,1.83-.46,2.74.41,1.2,2.07.58,2.7Zm0,0">
</path>
<path class="cls-12"
d="M107.71,219.29c-.26.82-1.45,1.2-2.64.85s-2-1.34-1.74-2.17,1.44-1.23,2.65-.85,2,1.32,1.73,2.17Zm0,0">
</path>
<path class="cls-12"
d="M116.36,219.92c0,.87-1,1.59-2.24,1.61s-2.29-.68-2.3-1.54,1-1.59,2.26-1.61,2.28.67,2.28,1.54Zm0,0">
</path>
<path class="cls-12"
d="M124.42,218.55c.15.85-.73,1.72-2,1.95s-2.37-.3-2.52-1.14.73-1.75,2-2,2.37.29,2.53,1.16Zm0,0"></path>
</svg></a>
<a class="footer-icon" id="footer_blog" href="https://ncbiinsights.ncbi.nlm.nih.gov/" aria-label="Blog">
<svg id="Layer_1" data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 40 40"><defs><style>.cls-1{fill:#737373;}</style></defs><path class="cls-1" d="M14,30a4,4,0,1,1-4-4,4,4,0,0,1,4,4Zm11,3A19,19,0,0,0,7.05,15a1,1,0,0,0-1,1v3a1,1,0,0,0,.93,1A14,14,0,0,1,20,33.07,1,1,0,0,0,21,34h3a1,1,0,0,0,1-1Zm9,0A28,28,0,0,0,7,6,1,1,0,0,0,6,7v3a1,1,0,0,0,1,1A23,23,0,0,1,29,33a1,1,0,0,0,1,1h3A1,1,0,0,0,34,33Z"/></svg>
</a>
</div>
</div>
</section>
<section class="container-fluid bg-primary">
<div class="container pt-5">
<div class="row mt-3">
<div class="col-lg-3 col-12">
<p><a class="text-white" href="https://www.nlm.nih.gov/socialmedia/index.html">Connect with NLM</a></p>
<ul class="list-inline social_media">
<li class="list-inline-item"><a href="https://twitter.com/NLM_NIH" aria-label="Twitter"
target="_blank" rel="noopener noreferrer">
<svg width="35" height="35" viewBox="0 0 38 35" fill="none" xmlns="http://www.w3.org/2000/svg">
<title>Twitter</title>
<g id="twitterx1009" clip-path="url(#clip0_65276_3946)">
<path id="Vector" d="M17.5006 34.6565C26.9761 34.6565 34.6575 26.9751 34.6575 17.4996C34.6575 8.02416 26.9761 0.342773 17.5006 0.342773C8.02514 0.342773 0.34375 8.02416 0.34375 17.4996C0.34375 26.9751 8.02514 34.6565 17.5006 34.6565Z" fill="#205493" stroke="white" stroke-width="1.2" stroke-miterlimit="10"></path>
<path id="path1009" d="M8.54811 8.5L16.2698 18.4279L8.50001 26.5H11.5L17.5 20L22.5486 26.5H28.5L20.5 16L27 8.5H24.5L19 14.5L14.5007 8.5H8.54927H8.54811ZM11.1197 9.73873H13.4519L25.4519 25.2613H23.1926L11.1197 9.73873Z" fill="white"></path>
</g>
<defs>
<clipPath id="clip0_65276_3946">
<rect width="38" height="38" fill="white"></rect>
</clipPath>
</defs>
</svg></a>
</li>
<li class="list-inline-item"><a href="https://www.facebook.com/nationallibraryofmedicine"
aria-label="Facebook" rel="noopener noreferrer" target="_blank">
<svg version="1.1" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink" x="0px"
y="0px" viewBox="0 0 249 249" style="enable-background:new 0 0 249 249;" xml:space="preserve">
<style type="text/css">
.st10 {
fill: #FFFFFF;
}
.st110 {
fill: none;
stroke: #FFFFFF;
stroke-width: 8;
stroke-miterlimit: 10;
}
</style>
<title>SM-Facebook</title>
<g>
<g>
<path class="st10" d="M159,99.1h-24V88.4c0-5,3.3-6.2,5.7-6.2h16.8V60l-24.4-0.1c-22.1,0-26.2,16.5-26.2,27.1v12.1H90v22.5h16.9
v67.5H135v-67.5h21.7L159,99.1z"></path>
</g>
</g>
<circle class="st110" cx="123.6" cy="123.2" r="108.2"></circle>
</svg>
</a></li>
<li class="list-inline-item"><a href="https://www.youtube.com/user/NLMNIH" aria-label="Youtube"
target="_blank" rel="noopener noreferrer"><svg version="1.1" xmlns="http://www.w3.org/2000/svg"
xmlns:xlink="http://www.w3.org/1999/xlink" x="0px" y="0px" viewBox="0 0 249 249"
style="enable-background:new 0 0 249 249;" xml:space="preserve">
<title>SM-Youtube</title>
<style type="text/css">
.st4 {
fill: none;
stroke: #FFFFFF;
stroke-width: 8;
stroke-miterlimit: 10;
}
.st5 {
fill: #FFFFFF;
}
</style>
<circle class="st4" cx="124.2" cy="123.4" r="108.2"></circle>
<g transform="translate(0,-952.36218)">
<path class="st5"
d="M88.4,1037.4c-10.4,0-18.7,8.3-18.7,18.7v40.1c0,10.4,8.3,18.7,18.7,18.7h72.1c10.4,0,18.7-8.3,18.7-18.7
v-40.1c0-10.4-8.3-18.7-18.7-18.7H88.4z M115.2,1058.8l29.4,17.4l-29.4,17.4V1058.8z"></path>
</g>
</svg></a></li>
</ul>
</div>
<div class="col-lg-3 col-12">
<p class="address_footer text-white">National Library of Medicine<br>
<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323"
class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br>
Bethesda, MD 20894</a></p>
</div>
<div class="col-lg-3 col-12 centered-lg">
<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br>
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office"
class="text-white">FOIA</a><br>
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
</div>
<div class="col-lg-3 col-12 centered-lg">
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br>
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br>
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
</div>
</div>
<div class="row">
<div class="col-lg-12 centered-lg">
<nav class="bottom-links">
<ul class="mt-3">
<li>
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
</li>
<li>
<a class="text-white"
href="https://www.nih.gov/">NIH</a>
</li>
<li>
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
</li>
<li>
<a
class="text-white" href="https://www.usa.gov/">USA.gov</a>
</li>
</ul>
</nav>
</div>
</div>
</div>
</section>
</footer>
<!-- ========== END FOOTER ========== -->
<!-- javascript to inject NWDS meta tags. Note: value of nwds_version is updated by "npm version" command -->
<script type="text/javascript">
var nwds_version = "1.2.3";
var meta_nwds_ver = document.createElement('meta');
meta_nwds_ver.name = 'ncbi_nwds_ver';
meta_nwds_ver.content = nwds_version;
document.getElementsByTagName('head')[0].appendChild(meta_nwds_ver);
var meta_nwds = document.createElement('meta');
meta_nwds.name = 'ncbi_nwds';
meta_nwds.content = 'yes';
document.getElementsByTagName('head')[0].appendChild(meta_nwds);
var alertsUrl = "/core/alerts/alerts.js";
if (typeof ncbiBaseUrl !== 'undefined') {
alertsUrl = ncbiBaseUrl + alertsUrl;
}
</script>
</div>
<!-- jQuery with plugins -->
<script src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/js/output.293fbf76aa18.js"></script>
<!-- Project base scripts -->
<script src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/js/output.550e9c8906a2.js"></script>
<script>
ncbi.awesome.basePage.init({
userInfo: {
isLoggedIn: false,
username: "",
loginUrl: "https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F11317355%2F",
logoutUrl: "https://www.ncbi.nlm.nih.gov/account/signout/?back_url=https%3A//pubmed.ncbi.nlm.nih.gov/11317355/"
},
baseUrl: 'https://www.ncbi.nlm.nih.gov',
noSessionCookieName: "pm-ns",
searchIdCookieName: "pm-sid",
adjNavSearchIdCookieName: "pm-adjnav-sid",
searchFormSubmittedCookieName: "pm-sfs",
isOnSearchPageCookieName: "pm-iosp",
backToSearchCookieName: "pm-btsl",
clinicalSeeAllCookieName: "pm-csa",
jsCookieDomain: "pubmed.ncbi.nlm.nih.gov",
userShareRequestFailed: "",
noSharedSettings: "myncbi_no_shared_settings",
noSharedAccount: "myncbi_no_shared_account"
});
</script>
<script type="module">
import dismissableNCBIAlert from "https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/core/dismissable-ncbi-alert.js";
jQuery.getScript("https://www.ncbi.nlm.nih.gov/core/alerts/alerts.js", function () {
galert(['body > *:last-child']);
dismissableNCBIAlert();
}).fail(function() {
});
</script>
<script defer type="text/javascript" src="https://cdn.ncbi.nlm.nih.gov/core/pinger/pinger.js"> </script>
<script src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/js/output.e3950ac8c6da.js"></script>
<script>
ncbi.awesome.articlePage.init({
baseSuggestionsUrl: "/suggestions/",
mathJaxUrl: "https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/mathjax/unpacked/MathJax.js?config=MML_CHTML",
clipboardAPIRoot: "/ajax/clipboard/",
clipboardNextPageUrl: "/clipboard-next-page/",
searchIdCookieName: "pm-sid",
searchFormSubmittedCookieName: "pm-sfs",
backToSearchCookieName: "pm-btsl",
jsCookieDomain: "pubmed.ncbi.nlm.nih.gov",
longTermPrefix: "longquery",
adjNavURLPath: "/11317355/adj-nav/",
adjNavSearchIdCookieName: "pm-adjnav-sid",
articlePageUrl: "/11317355/",
markJSUrl: "https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/mark.js/dist/jquery.mark.js",
termHighlightColor: "",
highlightedTokens: "",
citeFormatPreferenceCookieName: "pm-cf"
});
</script>
</body>
</html>