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<title>
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Entry
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- *150240 - LAMININ, BETA-1; LAMB1
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- OMIM
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</ul>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<li class="dropdown-header">
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Advanced Search
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<a href="/history"> Search History </a>
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Display:
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</form>
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<p />
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*150240</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/150240">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000091136;t=ENST00000222399" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=3912" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=150240" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000091136;t=ENST00000222399" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_002291,XM_047420359,XM_047420360" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_002291" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=150240" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
|
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</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=01029&isoform_id=01029_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/LAMB1" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/186837,186876,186913,186915,38197240,44210878,51095145,109731041,119603829,119603830,167614504,194382728,317373377,444738215,2217367089,2217367091,2462614331,2462614333,2462614335,2462614337,2462614339" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P07942" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=3912" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000091136;t=ENST00000222399" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB1" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=LAMB1" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+3912" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/LAMB1" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:3912" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/3912" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr7&hgg_gene=ENST00000222399.11&hgg_start=107923799&hgg_end=108003161&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:6486" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=150240[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=150240[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/LAMB1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000091136" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=LAMB1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=LAMB1" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=LAMB1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=LAMB1&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA30275" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:6486" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:96743" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/LAMB1#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:96743" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/3912/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002479/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=3912" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00002247;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-021226-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3912" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=LAMB1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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150240
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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LAMININ, BETA-1; LAMB1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=LAMB1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">LAMB1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
|
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<span class="mim-text-font">
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/7/584?start=-3&limit=10&highlight=584">7q31.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:107923799-108003161&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">7:107,923,799-108,003,161</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
|
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<tbody>
|
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/7/584?start=-3&limit=10&highlight=584">
|
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7q31.1
|
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</a>
|
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</span>
|
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</td>
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<p>The major components of basal laminae are the glycoproteins laminin and collagen IV (see <a href="/entry/120130">120130</a>), both of which are heterotrimers. Laminin is a cruciform protein trimer of chains that when originally isolated from the extracellular matrix of tumor cells, were named A, B1, and B2, but were renamed alpha-1, beta-1, and gamma-1, respectively (<a href="#1" class="mim-tip-reference" title="Burgeson, R. E., Chiquet, M., Deutzmann, R., Ekblom, P., Engel, J., Kleinman, H., Martin, G. R., Meneguzzi, G., Paulsson, M., Sanes, J., Timpl, R., Tryggvason, K., Yamada, Y., Yurchenco, P. D. <strong>A new nomenclature for the laminins.</strong> Matrix Biol. 14: 209-211, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7921537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7921537</a>] [<a href="https://doi.org/10.1016/0945-053x(94)90184-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7921537">Burgeson et al., 1994</a>). The laminin and collagen IV isoforms vary from one basal lamina to another and are members of multigene families. These gene families (like others, such as the globins and myosins) may provide a means of generating functional diversity within a common structural framework. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7921537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Laminin functions in relation to epithelial cells and type IV collagen in the manner that fibronectin (<a href="/entry/135600">135600</a>) does for type I collagen and tissue cells of many types and that chondronectin (<a href="/entry/118670">118670</a>) does for type II collagen and chondrocytes. It is present in serum in very low concentration (about 1 microg/ml) and indeed the laminin measured in serum by immunoassay may be in fragments. It binds heparin and heparin sulfate also (<a href="#6" class="mim-tip-reference" title="Kleinman, H. K. <strong>Personal Communication.</strong> Bethesda, Md. 1/7/1982."None>Kleinman, 1982</a>). The laminin molecule, of approximately 1 million daltons, is composed of one A chain (about 400,000 daltons) and three beta chains (about 200,000 daltons), held together by interchain disulfide bonds. Three species of B chains have been described. It is likely that the laminins may vary with regard to B chain composition. The B1 and B2 laminin genes, which are coordinately regulated with alpha-1(IV) (<a href="/entry/120130">120130</a>) and alpha-2(IV) (<a href="/entry/120090">120090</a>) collagen genes, are tightly linked on mouse chromosome 1 (<a href="#2" class="mim-tip-reference" title="Elliott, R. W., Barlow, D., Hogan, B. L. M. <strong>Linkage of genes for laminin B1 and B2 subunits on chromosome 1 in mouse.</strong> In Vitro Cell Dev. Biol. 21: 477-484, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2993224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2993224</a>] [<a href="https://doi.org/10.1007/BF02620837" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2993224">Elliott et al., 1985</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2993224" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#11" class="mim-tip-reference" title="Sasaki, M., Kato, S., Kohno, K., Martin, G. R., Yamada, Y. <strong>Sequence of the cDNA encoding the laminin B1 chain reveals a multidomain protein containing cysteine-rich repeats.</strong> Proc. Nat. Acad. Sci. 84: 935-939, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3493487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3493487</a>] [<a href="https://doi.org/10.1073/pnas.84.4.935" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3493487">Sasaki et al. (1987)</a> reported the sequence of cDNA encoding the laminin B1 chain. <a href="#7" class="mim-tip-reference" title="Modi, W. S., Jaye, M., O'Brien, S. J. <strong>Chromosomal localization of a cDNA clone for the human B1 laminin chain. (Abstract)</strong> Cytogenet. Cell Genet. 46: 663 only, 1987."None>Modi et al. (1987)</a> isolated a partial cDNA clone of the human gene encoding the laminin B1 chain. After identifying a sequence in the B1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor, <a href="#4" class="mim-tip-reference" title="Iwamoto, Y., Robey, F. A., Graf, J., Sasaki, M., Kleinman, H. K., Yamada, Y., Martin, G. R. <strong>YIGSR, a synthetic laminin pentapeptide, inhibits experimental metastasis formation.</strong> Science 238: 1132-1134, 1987. Note: Erratum: Science 239: 245 only, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2961059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2961059</a>] [<a href="https://doi.org/10.1126/science.2961059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2961059">Iwamoto et al. (1987)</a> tested this nonapeptide and its amide form as well as other peptides for their capacity to inhibit the formation of metastases. Specifically, a pentapeptide from the nonapeptide sequence was found to reduce the formation of lung colonies in mice injected with melanoma cells and also to inhibit the invasiveness of the cells in vitro. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2961059+3493487" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In mice, <a href="#10" class="mim-tip-reference" title="Radmanesh, F., Caglayan, A. O., Silhavy, J. L., Yilmaz, C.., Cantagrel, V., Omar, T., Rosti, B., Kaymakcalan, H., Gabriel, S., Li, M., Sestan, N., Bilguvar, K., Dobyns, W. B., Zaki, M. S., Gunel, M., Gleeson, J. G. <strong>Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.</strong> Am. J. Hum. Genet. 92: 468-474, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23472759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23472759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23472759[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.02.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23472759">Radmanesh et al. (2013)</a> found ubiquitous and strong expression of the Lamb1 gene in the whole E10 embryo, in the E14, E16, P0, and F15 forebrain, and in P15 cerebellum and muscle. Expression in embryonic meninges was also strong. Immunostaining of mouse brain at postnatal day 7 showed high levels of Lamb1 in the cerebellar basement membrane. Expression in the eye globe was lower compared to that in other tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23472759" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="mim-changed mim-change"><p>From genomic clones, <a href="#13" class="mim-tip-reference" title="Vuolteenaho, R., Chow, L. T., Tryggvason, K. <strong>Structure of the human laminin B1 chain gene.</strong> J. Biol. Chem. 265: 15611-15616, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975589</a>]" pmid="1975589">Vuolteenaho et al. (1990)</a> determined that the LAMB1 gene spans 80 kb. DNA sequencing and heteroduplex analyses demonstrated that the gene has 34 exons. The intron sizes varied from 92 to more than 15,000 basepairs. In fact, since their clones did not contain all of introns 13 and 14, the exact size of the gene remained undetermined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1975589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
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<p>Using Xenopus, <a href="#3" class="mim-tip-reference" title="Hopker, V. H., Shewan, D., Tessier-Lavigne, M., Poo, M., Holt, C. <strong>Growth-cone attraction to netrin-1 is converted to repulsion by laminin-1.</strong> Nature 401: 69-73, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10485706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10485706</a>] [<a href="https://doi.org/10.1038/43441" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10485706">Hopker et al. (1999)</a> demonstrated that laminin-1-beta from the extracellular matrix converts netrin (<a href="/entry/601614">601614</a>)-mediated attraction into repulsion. A soluble peptide fragment of laminin-1-beta (YIGSR) mimicked this laminin-induced conversion. Low levels of cAMP in growth cones also led to the conversion of netrin-induced attraction into repulsion, and <a href="#3" class="mim-tip-reference" title="Hopker, V. H., Shewan, D., Tessier-Lavigne, M., Poo, M., Holt, C. <strong>Growth-cone attraction to netrin-1 is converted to repulsion by laminin-1.</strong> Nature 401: 69-73, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10485706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10485706</a>] [<a href="https://doi.org/10.1038/43441" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10485706">Hopker et al. (1999)</a> showed that the amount of cAMP decreases in the presence of laminin-1 or YIGSR, suggesting a possible mechanism for laminin's effect. At the netrin-1-rich optic nerve head, where axons turn sharply to leave the eye, laminin-1 is confined to the retinal surface. Repulsion from the region in which laminin and netrin are coexpressed may help to drive axons into the region where only netrin is present, providing a mechanism for their escape from the retinal surface. <a href="#3" class="mim-tip-reference" title="Hopker, V. H., Shewan, D., Tessier-Lavigne, M., Poo, M., Holt, C. <strong>Growth-cone attraction to netrin-1 is converted to repulsion by laminin-1.</strong> Nature 401: 69-73, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10485706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10485706</a>] [<a href="https://doi.org/10.1038/43441" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10485706">Hopker et al. (1999)</a> concluded that extracellular matrix molecules not only promote axon outgrowth, but also modify the behavior of growth cones in response to diffusible guidance cues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10485706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a human brain transcriptome, <a href="#10" class="mim-tip-reference" title="Radmanesh, F., Caglayan, A. O., Silhavy, J. L., Yilmaz, C.., Cantagrel, V., Omar, T., Rosti, B., Kaymakcalan, H., Gabriel, S., Li, M., Sestan, N., Bilguvar, K., Dobyns, W. B., Zaki, M. S., Gunel, M., Gleeson, J. G. <strong>Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.</strong> Am. J. Hum. Genet. 92: 468-474, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23472759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23472759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23472759[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.02.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23472759">Radmanesh et al. (2013)</a> found that LAMB1 expression was correlated with expression of other genes involved in cortical lamination, including ZIC1 (<a href="/entry/600470">600470</a>), ZIC2 (<a href="/entry/603073">603073</a>), and genes encoding collagens, such as COL3A1 (<a href="/entry/120180">120180</a>), and other laminins, such as LAMC3 (<a href="/entry/604349">604349</a>), suggesting a genetic network regulating pial basement membrane function in the brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23472759" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Modi, W. S., Jaye, M., O'Brien, S. J. <strong>Chromosomal localization of a cDNA clone for the human B1 laminin chain. (Abstract)</strong> Cytogenet. Cell Genet. 46: 663 only, 1987."None>Modi et al. (1987)</a> mapped the LAMB1 locus to 7q31.1-q31.3 by Southern blot analysis of somatic cell hybrids and by in situ hybridization. On the other hand, by the same methods, <a href="#8" class="mim-tip-reference" title="Pikkarainen, T., Eddy, R., Fukushima, Y., Byers, M., Shows, T., Pihlajaniemi, T., Saraste, M., Tryggvason, K. <strong>Human laminin B1 chain: a multidomain protein with gene (LAMB1) locus in the q22 region of chromosome 7.</strong> J. Biol. Chem. 262: 10454-10462, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3611077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3611077</a>]" pmid="3611077">Pikkarainen et al. (1987)</a> placed LAMB1 in the 7q22 band. <a href="#5" class="mim-tip-reference" title="Jaye, M., Modi, W. S., Ricca, G. A., Mudd, R., Chiu, I.-M., O'Brien, S. J., Drohan, W. N. <strong>Isolation of a cDNA clone for the human laminin-B1 chain and its gene localization.</strong> Am. J. Hum. Genet. 41: 605-615, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3661559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3661559</a>]" pmid="3661559">Jaye et al. (1987)</a> regionalized LAMB1 to band 7q31 by somatic cell hybridization and in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3661559+3611077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 4 patients from 2 unrelated consanguineous families with lissencephaly-5 (LIS5; <a href="/entry/615191">615191</a>), <a href="#10" class="mim-tip-reference" title="Radmanesh, F., Caglayan, A. O., Silhavy, J. L., Yilmaz, C.., Cantagrel, V., Omar, T., Rosti, B., Kaymakcalan, H., Gabriel, S., Li, M., Sestan, N., Bilguvar, K., Dobyns, W. B., Zaki, M. S., Gunel, M., Gleeson, J. G. <strong>Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.</strong> Am. J. Hum. Genet. 92: 468-474, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23472759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23472759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23472759[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.02.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23472759">Radmanesh et al. (2013)</a> identified 2 different homozygous loss-of-function mutations in the LAMB1 gene (<a href="#0001">150240.0001</a> and <a href="#0002">150240.0002</a>, respectively). Both mutations were identified by exome sequencing. The brain malformations were characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Clinically, the patients had hydrocephalus, seizures, and severely delayed psychomotor development. The findings suggested a role for LAMB1 at the basement membrane, where it mediates both the integrity of the glia limitans and attachment of radial glial endfeet during neuronal migration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23472759" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 adult sibs, born of unrelated parents, with LIS5, <a href="#12" class="mim-tip-reference" title="Tonduti, D., Dorboz, I., Renaldo, F., Masliah-Planchon, J., Elmaleh-Berges, M., Dalens, H., Rodriguez, D., Boespflug-Tanguy, O. <strong>Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations.</strong> Neurology 84: 2195-2197, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25925986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25925986</a>] [<a href="https://doi.org/10.1212/WNL.0000000000001607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25925986">Tonduti et al. (2015)</a> identified compound heterozygous mutations in the LAMB1 gene: a frameshift mutation (<a href="#0003">150240.0003</a>) and a missense substitution (C481F; <a href="#0004">150240.0004</a>). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25925986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Burgeson, R. E., Chiquet, M., Deutzmann, R., Ekblom, P., Engel, J., Kleinman, H., Martin, G. R., Meneguzzi, G., Paulsson, M., Sanes, J., Timpl, R., Tryggvason, K., Yamada, Y., Yurchenco, P. D. <strong>A new nomenclature for the laminins.</strong> Matrix Biol. 14: 209-211, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7921537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7921537</a>] [<a href="https://doi.org/10.1016/0945-053x(94)90184-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7921537">Burgeson et al. (1994)</a>, a group of 14 leading researchers in the field of connective tissue proteins, adopted a new nomenclature for the laminins. They were numbered with arabic numerals in the order discovered. The previous A, B1, and B2 chains, and their isoforms, are alpha, beta, and gamma, respectively, followed by an arabic numeral to identify the isoform. For example, the first laminin identified from the Engelbreth-Holm-Swarm tumor (EHS) was designated laminin-1 with the chain composition alpha-1/beta-1/gamma-1. The genes for these 3 chains are LAMA1 (<a href="/entry/150320">150320</a>), LAMB1, and LAMC1 (<a href="/entry/150290">150290</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7921537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 sibs, born of consanguineous Egyptian parents, with lissencephaly-5 (LIS5; <a href="/entry/615191">615191</a>), <a href="#10" class="mim-tip-reference" title="Radmanesh, F., Caglayan, A. O., Silhavy, J. L., Yilmaz, C.., Cantagrel, V., Omar, T., Rosti, B., Kaymakcalan, H., Gabriel, S., Li, M., Sestan, N., Bilguvar, K., Dobyns, W. B., Zaki, M. S., Gunel, M., Gleeson, J. G. <strong>Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.</strong> Am. J. Hum. Genet. 92: 468-474, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23472759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23472759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23472759[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.02.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23472759">Radmanesh et al. (2013)</a> identified a homozygous 14-bp deletion/41-bp insertion (c.3145_3158delins41) in exon 22 of the LAMB1 gene, resulting in a frameshift and premature termination (Lys1049Profs*7) in a laminin EGF-like domain. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in several large control databases, 100 Egyptian individuals, or more than 2,000 in-house exomes. Linkage analysis of the family was consistent with the location of the causative mutation to chromosome 7q22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23472759" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a Turkish patient, born of consanguineous parents, with lissencephaly-5 (LIS5; <a href="/entry/615191">615191</a>), <a href="#10" class="mim-tip-reference" title="Radmanesh, F., Caglayan, A. O., Silhavy, J. L., Yilmaz, C.., Cantagrel, V., Omar, T., Rosti, B., Kaymakcalan, H., Gabriel, S., Li, M., Sestan, N., Bilguvar, K., Dobyns, W. B., Zaki, M. S., Gunel, M., Gleeson, J. G. <strong>Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.</strong> Am. J. Hum. Genet. 92: 468-474, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23472759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23472759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23472759[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.02.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23472759">Radmanesh et al. (2013)</a> identified a homozygous G-to-T transversion in intron 16 of the LAMB1 gene (c.2110+1G-T), resulting in abnormal splicing and a frameshift (Ser703fsTer62). The mutation, which was found by exome sequencing, was not present in several large control databases, 100 Turkish individuals, or more than 2,000 in-house exomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23472759" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 adult sibs, born of unrelated parents, with lissencephaly-5 (LIS5; <a href="/entry/615191">615191</a>), <a href="#12" class="mim-tip-reference" title="Tonduti, D., Dorboz, I., Renaldo, F., Masliah-Planchon, J., Elmaleh-Berges, M., Dalens, H., Rodriguez, D., Boespflug-Tanguy, O. <strong>Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations.</strong> Neurology 84: 2195-2197, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25925986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25925986</a>] [<a href="https://doi.org/10.1212/WNL.0000000000001607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25925986">Tonduti et al. (2015)</a> identified compound heterozygous mutations in the LAMB1 gene: a 1-bp deletion (c.2931del), resulting in a frameshift and premature termination (Gln977HisfsTer84), and a c.1442G-T transversion, resulting in a cys481-to-phe (C481F; <a href="#0004">150240.0004</a>) substitution. The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and were not found in 100 control chromosomes. Functional studies of the variants and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25925986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs879255267 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879255267;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs879255267?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs879255267" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs879255267" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000210961" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210961" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210961</a>
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<p>For discussion of the c.1442G-T transversion, resulting in a cys481-to-phe (C481F) substitution, in the LAMB1 gene that was found in compound heterozygous state in 2 sibs with lissencephaly-5 (LIS5; <a href="/entry/615191">615191</a>) by <a href="#12" class="mim-tip-reference" title="Tonduti, D., Dorboz, I., Renaldo, F., Masliah-Planchon, J., Elmaleh-Berges, M., Dalens, H., Rodriguez, D., Boespflug-Tanguy, O. <strong>Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations.</strong> Neurology 84: 2195-2197, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25925986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25925986</a>] [<a href="https://doi.org/10.1212/WNL.0000000000001607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25925986">Tonduti et al. (2015)</a>, see <a href="#0003">150240.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25925986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Pikkarainen1989" class="mim-tip-reference" title="Pikkarainen, T., Savolainen, E.-R., Tryggvason, K. <strong>Nhe I and Hinc II polymorphisms in the human laminin B1 chain gene on 7q22.</strong> Nucleic Acids Res. 17: 4424 only, 1989.">Pikkarainen et al. (1989)</a>
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[<a href="https://doi.org/10.1016/0945-053x(94)90184-8" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2993224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2993224</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2993224" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF02620837" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10485706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10485706</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10485706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/43441" target="_blank">Full Text</a>]
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Iwamoto, Y., Robey, F. A., Graf, J., Sasaki, M., Kleinman, H. K., Yamada, Y., Martin, G. R.
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<strong>YIGSR, a synthetic laminin pentapeptide, inhibits experimental metastasis formation.</strong>
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Science 238: 1132-1134, 1987. Note: Erratum: Science 239: 245 only, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2961059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2961059</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2961059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.2961059" target="_blank">Full Text</a>]
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Jaye, M., Modi, W. S., Ricca, G. A., Mudd, R., Chiu, I.-M., O'Brien, S. J., Drohan, W. N.
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<strong>Isolation of a cDNA clone for the human laminin-B1 chain and its gene localization.</strong>
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Am. J. Hum. Genet. 41: 605-615, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3661559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3661559</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3661559" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kleinman, H. K.
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Pikkarainen, T., Eddy, R., Fukushima, Y., Byers, M., Shows, T., Pihlajaniemi, T., Saraste, M., Tryggvason, K.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3611077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3611077</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3611077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Pikkarainen1989" class="mim-anchor"></a>
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Pikkarainen, T., Savolainen, E.-R., Tryggvason, K.
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<strong>Nhe I and Hinc II polymorphisms in the human laminin B1 chain gene on 7q22.</strong>
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Nucleic Acids Res. 17: 4424 only, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2567987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2567987</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2567987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/17.11.4424" target="_blank">Full Text</a>]
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Radmanesh, F., Caglayan, A. O., Silhavy, J. L., Yilmaz, C.., Cantagrel, V., Omar, T., Rosti, B., Kaymakcalan, H., Gabriel, S., Li, M., Sestan, N., Bilguvar, K., Dobyns, W. B., Zaki, M. S., Gunel, M., Gleeson, J. G.
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<strong>Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23472759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23472759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23472759[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23472759" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2013.02.005" target="_blank">Full Text</a>]
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Sasaki, M., Kato, S., Kohno, K., Martin, G. R., Yamada, Y.
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<strong>Sequence of the cDNA encoding the laminin B1 chain reveals a multidomain protein containing cysteine-rich repeats.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3493487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3493487</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3493487" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.84.4.935" target="_blank">Full Text</a>]
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Tonduti, D., Dorboz, I., Renaldo, F., Masliah-Planchon, J., Elmaleh-Berges, M., Dalens, H., Rodriguez, D., Boespflug-Tanguy, O.
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<strong>Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations.</strong>
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Neurology 84: 2195-2197, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25925986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25925986</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25925986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/WNL.0000000000001607" target="_blank">Full Text</a>]
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Vuolteenaho, R., Chow, L. T., Tryggvason, K.
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<strong>Structure of the human laminin B1 chain gene.</strong>
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J. Biol. Chem. 265: 15611-15616, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975589</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1975589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin - updated : 4/27/2016
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Cassandra L. Kniffin - updated : 4/22/2013<br>Ada Hamosh - updated : 2/14/2000
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/17/2025
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/14/2021<br>alopez : 05/04/2016<br>alopez : 5/4/2016<br>ckniffin : 4/27/2016<br>carol : 9/5/2013<br>carol : 4/23/2013<br>carol : 4/23/2013<br>ckniffin : 4/22/2013<br>terry : 9/24/2012<br>carol : 7/19/2011<br>alopez : 9/19/2007<br>joanna : 3/17/2004<br>joanna : 1/31/2002<br>alopez : 2/14/2000<br>carol : 7/6/1998<br>dkim : 7/2/1998<br>terry : 10/15/1996<br>mark : 8/2/1995<br>mimadm : 11/5/1994<br>jason : 7/29/1994<br>carol : 5/27/1994<br>warfield : 4/12/1994<br>carol : 11/12/1993
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</span>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 150240
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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LAMININ, BETA-1; LAMB1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: LAMB1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 7q31.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 7:107,923,799-108,003,161 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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7q31.1
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</span>
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</td>
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<td>
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<span class="mim-font">
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Lissencephaly 5
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</span>
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</td>
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<td>
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<span class="mim-font">
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615191
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The major components of basal laminae are the glycoproteins laminin and collagen IV (see 120130), both of which are heterotrimers. Laminin is a cruciform protein trimer of chains that when originally isolated from the extracellular matrix of tumor cells, were named A, B1, and B2, but were renamed alpha-1, beta-1, and gamma-1, respectively (Burgeson et al., 1994). The laminin and collagen IV isoforms vary from one basal lamina to another and are members of multigene families. These gene families (like others, such as the globins and myosins) may provide a means of generating functional diversity within a common structural framework. </p><p>Laminin functions in relation to epithelial cells and type IV collagen in the manner that fibronectin (135600) does for type I collagen and tissue cells of many types and that chondronectin (118670) does for type II collagen and chondrocytes. It is present in serum in very low concentration (about 1 microg/ml) and indeed the laminin measured in serum by immunoassay may be in fragments. It binds heparin and heparin sulfate also (Kleinman, 1982). The laminin molecule, of approximately 1 million daltons, is composed of one A chain (about 400,000 daltons) and three beta chains (about 200,000 daltons), held together by interchain disulfide bonds. Three species of B chains have been described. It is likely that the laminins may vary with regard to B chain composition. The B1 and B2 laminin genes, which are coordinately regulated with alpha-1(IV) (120130) and alpha-2(IV) (120090) collagen genes, are tightly linked on mouse chromosome 1 (Elliott et al., 1985). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sasaki et al. (1987) reported the sequence of cDNA encoding the laminin B1 chain. Modi et al. (1987) isolated a partial cDNA clone of the human gene encoding the laminin B1 chain. After identifying a sequence in the B1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor, Iwamoto et al. (1987) tested this nonapeptide and its amide form as well as other peptides for their capacity to inhibit the formation of metastases. Specifically, a pentapeptide from the nonapeptide sequence was found to reduce the formation of lung colonies in mice injected with melanoma cells and also to inhibit the invasiveness of the cells in vitro. </p><p>In mice, Radmanesh et al. (2013) found ubiquitous and strong expression of the Lamb1 gene in the whole E10 embryo, in the E14, E16, P0, and F15 forebrain, and in P15 cerebellum and muscle. Expression in embryonic meninges was also strong. Immunostaining of mouse brain at postnatal day 7 showed high levels of Lamb1 in the cerebellar basement membrane. Expression in the eye globe was lower compared to that in other tissues. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>From genomic clones, Vuolteenaho et al. (1990) determined that the LAMB1 gene spans 80 kb. DNA sequencing and heteroduplex analyses demonstrated that the gene has 34 exons. The intron sizes varied from 92 to more than 15,000 basepairs. In fact, since their clones did not contain all of introns 13 and 14, the exact size of the gene remained undetermined. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using Xenopus, Hopker et al. (1999) demonstrated that laminin-1-beta from the extracellular matrix converts netrin (601614)-mediated attraction into repulsion. A soluble peptide fragment of laminin-1-beta (YIGSR) mimicked this laminin-induced conversion. Low levels of cAMP in growth cones also led to the conversion of netrin-induced attraction into repulsion, and Hopker et al. (1999) showed that the amount of cAMP decreases in the presence of laminin-1 or YIGSR, suggesting a possible mechanism for laminin's effect. At the netrin-1-rich optic nerve head, where axons turn sharply to leave the eye, laminin-1 is confined to the retinal surface. Repulsion from the region in which laminin and netrin are coexpressed may help to drive axons into the region where only netrin is present, providing a mechanism for their escape from the retinal surface. Hopker et al. (1999) concluded that extracellular matrix molecules not only promote axon outgrowth, but also modify the behavior of growth cones in response to diffusible guidance cues. </p><p>In a human brain transcriptome, Radmanesh et al. (2013) found that LAMB1 expression was correlated with expression of other genes involved in cortical lamination, including ZIC1 (600470), ZIC2 (603073), and genes encoding collagens, such as COL3A1 (120180), and other laminins, such as LAMC3 (604349), suggesting a genetic network regulating pial basement membrane function in the brain. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Modi et al. (1987) mapped the LAMB1 locus to 7q31.1-q31.3 by Southern blot analysis of somatic cell hybrids and by in situ hybridization. On the other hand, by the same methods, Pikkarainen et al. (1987) placed LAMB1 in the 7q22 band. Jaye et al. (1987) regionalized LAMB1 to band 7q31 by somatic cell hybridization and in situ hybridization. </p>
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|
</span>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
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</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>In 4 patients from 2 unrelated consanguineous families with lissencephaly-5 (LIS5; 615191), Radmanesh et al. (2013) identified 2 different homozygous loss-of-function mutations in the LAMB1 gene (150240.0001 and 150240.0002, respectively). Both mutations were identified by exome sequencing. The brain malformations were characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Clinically, the patients had hydrocephalus, seizures, and severely delayed psychomotor development. The findings suggested a role for LAMB1 at the basement membrane, where it mediates both the integrity of the glia limitans and attachment of radial glial endfeet during neuronal migration. </p><p>In 2 adult sibs, born of unrelated parents, with LIS5, Tonduti et al. (2015) identified compound heterozygous mutations in the LAMB1 gene: a frameshift mutation (150240.0003) and a missense substitution (C481F; 150240.0004). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed. </p>
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</span>
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<div>
|
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<br />
|
|
</div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Nomenclature</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Burgeson et al. (1994), a group of 14 leading researchers in the field of connective tissue proteins, adopted a new nomenclature for the laminins. They were numbered with arabic numerals in the order discovered. The previous A, B1, and B2 chains, and their isoforms, are alpha, beta, and gamma, respectively, followed by an arabic numeral to identify the isoform. For example, the first laminin identified from the Engelbreth-Holm-Swarm tumor (EHS) was designated laminin-1 with the chain composition alpha-1/beta-1/gamma-1. The genes for these 3 chains are LAMA1 (150320), LAMB1, and LAMC1 (150290). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>4 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 LISSENCEPHALY 5</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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LAMB1, 14-BP DEL/41-BP INS, NT3145
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<br />
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SNP: rs387907343,
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ClinVar: RCV000034856
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 sibs, born of consanguineous Egyptian parents, with lissencephaly-5 (LIS5; 615191), Radmanesh et al. (2013) identified a homozygous 14-bp deletion/41-bp insertion (c.3145_3158delins41) in exon 22 of the LAMB1 gene, resulting in a frameshift and premature termination (Lys1049Profs*7) in a laminin EGF-like domain. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in several large control databases, 100 Egyptian individuals, or more than 2,000 in-house exomes. Linkage analysis of the family was consistent with the location of the causative mutation to chromosome 7q22. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 LISSENCEPHALY 5</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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LAMB1, IVS16DS, G-T, +1
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<br />
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SNP: rs387907344,
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gnomAD: rs387907344,
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ClinVar: RCV000034857
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a Turkish patient, born of consanguineous parents, with lissencephaly-5 (LIS5; 615191), Radmanesh et al. (2013) identified a homozygous G-to-T transversion in intron 16 of the LAMB1 gene (c.2110+1G-T), resulting in abnormal splicing and a frameshift (Ser703fsTer62). The mutation, which was found by exome sequencing, was not present in several large control databases, 100 Turkish individuals, or more than 2,000 in-house exomes. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0003 LISSENCEPHALY 5</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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LAMB1, 1-BP DEL, NT2931
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<br />
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SNP: rs879255266,
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ClinVar: RCV000211028
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 2 adult sibs, born of unrelated parents, with lissencephaly-5 (LIS5; 615191), Tonduti et al. (2015) identified compound heterozygous mutations in the LAMB1 gene: a 1-bp deletion (c.2931del), resulting in a frameshift and premature termination (Gln977HisfsTer84), and a c.1442G-T transversion, resulting in a cys481-to-phe (C481F; 150240.0004) substitution. The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and were not found in 100 control chromosomes. Functional studies of the variants and studies of patient cells were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 LISSENCEPHALY 5</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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LAMB1, CYS481PHE
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<br />
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SNP: rs879255267,
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gnomAD: rs879255267,
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ClinVar: RCV000210961
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the c.1442G-T transversion, resulting in a cys481-to-phe (C481F) substitution, in the LAMB1 gene that was found in compound heterozygous state in 2 sibs with lissencephaly-5 (LIS5; 615191) by Tonduti et al. (2015), see 150240.0003. </p>
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</span>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Pikkarainen et al. (1989)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Burgeson, R. E., Chiquet, M., Deutzmann, R., Ekblom, P., Engel, J., Kleinman, H., Martin, G. R., Meneguzzi, G., Paulsson, M., Sanes, J., Timpl, R., Tryggvason, K., Yamada, Y., Yurchenco, P. D.
|
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<strong>A new nomenclature for the laminins.</strong>
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Matrix Biol. 14: 209-211, 1994.
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[PubMed: 7921537]
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[Full Text: https://doi.org/10.1016/0945-053x(94)90184-8]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Elliott, R. W., Barlow, D., Hogan, B. L. M.
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<strong>Linkage of genes for laminin B1 and B2 subunits on chromosome 1 in mouse.</strong>
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In Vitro Cell Dev. Biol. 21: 477-484, 1985.
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[PubMed: 2993224]
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[Full Text: https://doi.org/10.1007/BF02620837]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hopker, V. H., Shewan, D., Tessier-Lavigne, M., Poo, M., Holt, C.
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<strong>Growth-cone attraction to netrin-1 is converted to repulsion by laminin-1.</strong>
|
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Nature 401: 69-73, 1999.
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[PubMed: 10485706]
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[Full Text: https://doi.org/10.1038/43441]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Iwamoto, Y., Robey, F. A., Graf, J., Sasaki, M., Kleinman, H. K., Yamada, Y., Martin, G. R.
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<strong>YIGSR, a synthetic laminin pentapeptide, inhibits experimental metastasis formation.</strong>
|
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Science 238: 1132-1134, 1987. Note: Erratum: Science 239: 245 only, 1988.
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[PubMed: 2961059]
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[Full Text: https://doi.org/10.1126/science.2961059]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Jaye, M., Modi, W. S., Ricca, G. A., Mudd, R., Chiu, I.-M., O'Brien, S. J., Drohan, W. N.
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<strong>Isolation of a cDNA clone for the human laminin-B1 chain and its gene localization.</strong>
|
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Am. J. Hum. Genet. 41: 605-615, 1987.
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[PubMed: 3661559]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kleinman, H. K.
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<strong>Personal Communication.</strong>
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Bethesda, Md. 1/7/1982.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Modi, W. S., Jaye, M., O'Brien, S. J.
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<strong>Chromosomal localization of a cDNA clone for the human B1 laminin chain. (Abstract)</strong>
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Cytogenet. Cell Genet. 46: 663 only, 1987.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Pikkarainen, T., Eddy, R., Fukushima, Y., Byers, M., Shows, T., Pihlajaniemi, T., Saraste, M., Tryggvason, K.
|
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<strong>Human laminin B1 chain: a multidomain protein with gene (LAMB1) locus in the q22 region of chromosome 7.</strong>
|
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J. Biol. Chem. 262: 10454-10462, 1987.
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[PubMed: 3611077]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Pikkarainen, T., Savolainen, E.-R., Tryggvason, K.
|
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<strong>Nhe I and Hinc II polymorphisms in the human laminin B1 chain gene on 7q22.</strong>
|
|
Nucleic Acids Res. 17: 4424 only, 1989.
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[PubMed: 2567987]
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[Full Text: https://doi.org/10.1093/nar/17.11.4424]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Radmanesh, F., Caglayan, A. O., Silhavy, J. L., Yilmaz, C.., Cantagrel, V., Omar, T., Rosti, B., Kaymakcalan, H., Gabriel, S., Li, M., Sestan, N., Bilguvar, K., Dobyns, W. B., Zaki, M. S., Gunel, M., Gleeson, J. G.
|
|
<strong>Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.</strong>
|
|
Am. J. Hum. Genet. 92: 468-474, 2013.
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[PubMed: 23472759]
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[Full Text: https://doi.org/10.1016/j.ajhg.2013.02.005]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Sasaki, M., Kato, S., Kohno, K., Martin, G. R., Yamada, Y.
|
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<strong>Sequence of the cDNA encoding the laminin B1 chain reveals a multidomain protein containing cysteine-rich repeats.</strong>
|
|
Proc. Nat. Acad. Sci. 84: 935-939, 1987.
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[PubMed: 3493487]
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[Full Text: https://doi.org/10.1073/pnas.84.4.935]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Tonduti, D., Dorboz, I., Renaldo, F., Masliah-Planchon, J., Elmaleh-Berges, M., Dalens, H., Rodriguez, D., Boespflug-Tanguy, O.
|
|
<strong>Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations.</strong>
|
|
Neurology 84: 2195-2197, 2015.
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|
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[PubMed: 25925986]
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[Full Text: https://doi.org/10.1212/WNL.0000000000001607]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Vuolteenaho, R., Chow, L. T., Tryggvason, K.
|
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<strong>Structure of the human laminin B1 chain gene.</strong>
|
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J. Biol. Chem. 265: 15611-15616, 1990.
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[PubMed: 1975589]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 4/27/2016<br>Cassandra L. Kniffin - updated : 4/22/2013<br>Ada Hamosh - updated : 2/14/2000
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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carol : 01/17/2025<br>carol : 10/14/2021<br>alopez : 05/04/2016<br>alopez : 5/4/2016<br>ckniffin : 4/27/2016<br>carol : 9/5/2013<br>carol : 4/23/2013<br>carol : 4/23/2013<br>ckniffin : 4/22/2013<br>terry : 9/24/2012<br>carol : 7/19/2011<br>alopez : 9/19/2007<br>joanna : 3/17/2004<br>joanna : 1/31/2002<br>alopez : 2/14/2000<br>carol : 7/6/1998<br>dkim : 7/2/1998<br>terry : 10/15/1996<br>mark : 8/2/1995<br>mimadm : 11/5/1994<br>jason : 7/29/1994<br>carol : 5/27/1994<br>warfield : 4/12/1994<br>carol : 11/12/1993
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