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Entry
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- *600805 - LAMININ, ALPHA-3; LAMA3
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*600805</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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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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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 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="#geneFunction">Gene Function</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="#animalModel">Animal Model</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/600805">Table View</a>
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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 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=ENSG00000053747;t=ENST00000313654" 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=3909" 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=600805" 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=ENSG00000053747;t=ENST00000313654" 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_000227,NM_001127717,NM_001127718,NM_001302996,NM_198129,NR_130106,XM_011525978,XM_011525979,XM_011525980,XM_011525981,XM_011525982,XM_017025743,XM_017025744,XM_047437503,XM_047437504,XM_047437505,XM_047437506" 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_198129" 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=600805" 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=02883&isoform_id=02883_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/LAMA3" 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/551597,551599,1149513,1149515,1850825,2627429,5777581,14582390,34452235,34452237,34452239,46020022,62087286,62203479,118600898,119621572,119621573,167887604,167887605,444737817,732170489,732170491,732170493,732170495,732170497,767998701,767998703,767998705,767998707,767998709,1034604008,1034604010,2203400739,2217316808,2217316810,2217316812,2217316815,2462560434,2462560436,2462560438,2462560440,2462560442,2462560444,2462560446,2462560448,2462560450,2462560452,2462560454" 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/Q16787" 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=3909" 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=ENSG00000053747;t=ENST00000313654" 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=LAMA3" 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=LAMA3" 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+3909" 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/LAMA3" 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:3909" 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/3909" 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=chr18&hgg_gene=ENST00000313654.14&hgg_start=23689453&hgg_end=23955066&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/gene-dosage/HGNC:6483" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/lama3" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600805[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=600805[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://gnomad.broadinstitute.org/gene/ENSG00000053747" 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=LAMA3" 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=LAMA3" 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=LAMA3" 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=LAMA3&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/PA30272" 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:6483" 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://flybase.org/reports/FBgn0002526.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:99909" 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/LAMA3#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:99909" 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/3909/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/OMIA001677/" 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=3909" 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=WBGene00001328;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-050208-475" 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:3909" 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=LAMA3&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 722675000<br />
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">ICD+</a>
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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>
|
|
600805
|
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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, ALPHA-3; LAMA3
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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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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
LAMININ A3<br />
|
|
LAMININ 5, ALPHA-3 SUBUNIT<br />
|
|
LAM5, ALPHA-3 SUBUNIT<br />
|
|
EPILIGRIN, 170-KD SUBUNIT<br />
|
|
BM600
|
|
</span>
|
|
</h4>
|
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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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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=LAMA3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">LAMA3</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/18/96?start=-3&limit=10&highlight=96">18q11.2</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr18:23689453-23955066&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'})">18:23,689,453-23,955,066</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
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|
|
</span>
|
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</p>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=619783,619784,245660" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/18/96?start=-3&limit=10&highlight=96">
|
|
18q11.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Epidermolysis bullosa, junctional 2A, intermediate
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/619783"> 619783 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
|
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</tr>
|
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|
|
|
|
|
|
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Epidermolysis bullosa, junctional 2B, severe
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/619784"> 619784 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>Laminin-5 (LAM5) is an isoform within the laminin family of proteins that is composed of 3 distinct polypeptides, the alpha-3, beta-3 (LAMB3; <a href="/entry/150310">150310</a>), and gamma-2 (LAMC2; <a href="/entry/150292">150292</a>) chains, according to the nomenclature of <a href="#2" 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>. Laminin-5 has also been referred to as nicein, kalinin, and epiligrin (<a href="#14" class="mim-tip-reference" title="Ryan, M. C., Tizard, R., VanDevanter, D. R., Carter, W. G. <strong>Cloning of the LamA3 gene encoding the alpha-3 chain of the adhesive ligand epiligrin: expression in wound repair.</strong> J. Biol. Chem. 269: 22779-22787, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8077230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8077230</a>]" pmid="8077230">Ryan et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7921537+8077230" 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="#14" class="mim-tip-reference" title="Ryan, M. C., Tizard, R., VanDevanter, D. R., Carter, W. G. <strong>Cloning of the LamA3 gene encoding the alpha-3 chain of the adhesive ligand epiligrin: expression in wound repair.</strong> J. Biol. Chem. 269: 22779-22787, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8077230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8077230</a>]" pmid="8077230">Ryan et al. (1994)</a> isolated cDNA clones encoding the 170-kD chain of epiligrin and a genomic clone encoding the LAMA3 gene. Analysis of multiple cDNA clones revealed 2 distinct transcripts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8077230" 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><a href="#17" class="mim-tip-reference" title="Vidal, F., Baudoin, C., Miquel, C., Galliano, M.-F., Christiano, A. M., Uitto, J., Ortonne, J.-P., Meneguzzi, G. <strong>Cloning of the laminin alpha-3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa.</strong> Genomics 30: 273-280, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8586427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8586427</a>] [<a href="https://doi.org/10.1006/geno.1995.9877" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8586427">Vidal et al. (1995)</a> isolated a cDNA clone corresponding to the LAMA3 gene. The authors also reported the identity of the alpha chains of laminin-5, and provided evidence that LAMA3 transcripts are distinct from the laminin-6 alpha chain mRNA. In epithelial basement membranes, laminin-5 and laminin-6 form a complex that functions as a cell adhesion ligand for integrins, and it had been suggested that laminins 5 and 6 may share the same alpha chain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8586427" 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>By fluorescence in situ hybridization, <a href="#14" class="mim-tip-reference" title="Ryan, M. C., Tizard, R., VanDevanter, D. R., Carter, W. G. <strong>Cloning of the LamA3 gene encoding the alpha-3 chain of the adhesive ligand epiligrin: expression in wound repair.</strong> J. Biol. Chem. 269: 22779-22787, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8077230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8077230</a>]" pmid="8077230">Ryan et al. (1994)</a> mapped the LAMA3 gene to chromosome 18q11.2, a locus distinct from the LAMA1 gene (<a href="/entry/150320">150320</a>), which is located on 18p11.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8077230" 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="#16" class="mim-tip-reference" title="Taniuchi, K., Takata, M., Matsui, C., Fushida, Y., Uchiyama, K., Mori, T., Kawara, S., Yancey, K. B., Takehara, K. <strong>Antiepiligrin (laminin 5) cicatricial pemphigoid associated with an underlying gastric carcinoma producing laminin 5.</strong> Brit. J. Derm. 140: 696-700, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10233324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10233324</a>] [<a href="https://doi.org/10.1046/j.1365-2133.1999.02773.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10233324">Taniuchi et al. (1999)</a> described a 61-year-old patient with acquired circulating autoantibodies to epiligrin (laminin-5) and cicatricial pemphigoid associated with advanced gastric carcinoma. Immunofluorescence microscopy and immunoprecipitation studies demonstrated that the gastric carcinoma cells in this patient produced laminin-5, and that the patient's serum contained autoantibodies directed against laminin-5. The blistering symptoms and the titer of antibasement membrane zone antibodies coordinately changed with the resection and subsequent relapse of the gastric cancer. <a href="#16" class="mim-tip-reference" title="Taniuchi, K., Takata, M., Matsui, C., Fushida, Y., Uchiyama, K., Mori, T., Kawara, S., Yancey, K. B., Takehara, K. <strong>Antiepiligrin (laminin 5) cicatricial pemphigoid associated with an underlying gastric carcinoma producing laminin 5.</strong> Brit. J. Derm. 140: 696-700, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10233324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10233324</a>] [<a href="https://doi.org/10.1046/j.1365-2133.1999.02773.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10233324">Taniuchi et al. (1999)</a> concluded that cicatricial pemphigoid in this patient was a paraneoplastic disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10233324" 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><strong><em>Intermediate Junctional Epidermolysis Bullosa 2A</em></strong></p><p>
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<a href="#12" class="mim-tip-reference" title="Nakano, A., Chao, S.-C., Pulkkinen, L., Murrell, D., Bruckner-Tuderman, L., Pfendner, E., Uitto, J. <strong>Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes.</strong> Hum. Genet. 110: 41-51, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810295</a>] [<a href="https://doi.org/10.1007/s00439-001-0630-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810295">Nakano et al. (2002)</a> identified mutations in the LAMA3 gene in patients with non-Herlitz junctional epidermolysis bullosa (JEB2A; <a href="/entry/619783">619783</a>); see, e.g., <a href="#0003">600805.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11810295" 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><strong><em>Severe Junctional Epidermolysis Bullosa 2B</em></strong></p><p>
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In a boy with the lethal Herlitz form of junctional epidermolysis bullosa (JEB2B; <a href="/entry/619784">619784</a>), <a href="#7" class="mim-tip-reference" title="Kivirikko, S., McGrath, J. A., Baudoin, C., Aberdam, D., Ciatti, S., Dunnill, M. G. S., McMillan, J. R., Eady, R. A. J., Ortonne, J.-P., Meneguzzi, G., Uitto, J., Christiano, A. M. <strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.</strong> Hum. Molec. Genet. 4: 959-962, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7633458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7633458</a>] [<a href="https://doi.org/10.1093/hmg/4.5.959" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7633458">Kivirikko et al. (1995)</a> identified a homozygous nonsense mutation in the LAMA3 gene (R650X; <a href="#0002">600805.0002</a>). The infant was born of consanguineous Asian parents and died in early infancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7633458" 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><a href="#10" class="mim-tip-reference" title="McGrath, J. A., Kivirikko, S., Ciatti, S., Moss, C., Dunnill, M. G. S., Eady, R. A. J., Rodeck, C. H., Christiano, A. M., Uitto, J. <strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.</strong> Genomics 29: 282-284, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530087</a>] [<a href="https://doi.org/10.1006/geno.1995.1246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8530087">McGrath et al. (1995)</a> identified a homozygous R650X mutation in a child with Herlitz JEB who was born of consanguineous Pakistani parents. The patient presented at birth with extensive blisters and erosions. Electron microscopy of the skin revealed scanty, rudimentary hemidesmosome-anchoring filament complexes and tissue separation within the lamina lucida. Immunofluorescence staining of the basement membrane zone with an anti-laminin-5 antibody revealed absent labeling. Both unaffected parents were heterozygous mutation carriers. Fetal DNA extracted from a chorionic villus biopsy obtained at 10 weeks' gestation in a subsequent pregnancy showed that the fetus was not affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8530087" 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><strong><em>Laryngoonychocutaneous Junctional Epidermolysis Bullosa 2C</em></strong></p><p>
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Laryngoonychocutaneous junctional epidermolysis bullosa 2C (JEB2C; <a href="/entry/245660">245660</a>), also known as laryngoonychocutaneous or Shabbir syndrome (LOCS), is an autosomal recessive epithelial disorder confined to the Punjabi Muslim population. <a href="#11" class="mim-tip-reference" title="McLean, W. H. I., Irvine, A. D., Hamill, K. J., Whittock, N. V., Coleman-Campbell, C. M., Mellerio, J. E., Ashton, G. S., Dopping-Hepenstal, P. J. H., Eady, R. A. J., Jamil, T., Phillips, R. J., Shabbir, S. G., Haroon, T. S., Khurshid, K., Moore, J. E., Page, B., Darling, J., Atherton, D. J., van Steensel, M. A. M., Munro, C. S., Smith, F. J. D., McGrath, J. A. <strong>An unusual N-terminal deletion of the laminin alpha-3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.</strong> Hum. Molec. Genet. 12: 2395-2409, 2003. Note: Erratum: Hum. Molec. Genet. 13: 365 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12915477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12915477</a>] [<a href="https://doi.org/10.1093/hmg/ddg234" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12915477">McLean et al. (2003)</a> localized the gene for LOCS to a 2-Mb region on chromosome 18q11.2 (lod = 19.8 at theta = 0), which includes the LAMA3 gene. The authors determined that 3 distinct isoforms of the LAMA3 gene product were expressed due to differential splicing, which they designated laminin alpha-3a, alpha-3b1, and alpha-3b2. A causative LAMA3 mutation was identified in 15 consanguineous Punjabi LOCS families, consisting of a frameshift mutation (151insG; <a href="#0004">600805.0004</a>) predicting a stop codon in an exon that is specific to LAMA3. This protein is secreted only by the basal keratinocytes of stratified epithelia, implying that LOCS may be caused by dysfunction of keratinocyte-mesenchymal communication. The authors hypothesized that the laminin alpha-3a N-terminal domain may be a key regulator of the granulation tissue response. <a href="#5" class="mim-tip-reference" title="Fine, J.-D., Eady, R. A. J., Bauer, E. A., Bauer, J. W., Bruckner-Tuderman, L., Heagerty, A., Hintner, H., Hovnanian, A., Jonkman, M. F., Leigh, I., McGrath, J. A., Mellerio, J. E., Murrell, D. F., Shimizu, H., Uitto, J., Vahlquist, A., Woodley, D., Zambruno, G. <strong>The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on diagnosis and classification of EB.</strong> J. Am. Acad. Derm. 58: 931-950, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18374450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18374450</a>] [<a href="https://doi.org/10.1016/j.jaad.2008.02.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18374450">Fine et al. (2008)</a> noted that Shabbir syndrome is considered to be a variant of JEB. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18374450+12915477" 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><a href="#4" class="mim-tip-reference" title="Figueira, E. C., Crotty, A., Challinor, C. J., Coroneo, M. T., Murrell, D. F. <strong>Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome.</strong> Clin. Exp. Ophthal. 35: 163-166, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17362460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17362460</a>] [<a href="https://doi.org/10.1111/j.1442-9071.2006.01436.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17362460">Figueira et al. (2007)</a> described a 7-year-old Caucasian boy with overlapping features of JEB and LOCS. They identified compound heterozygosity for mutations in the LAMA3 gene: a paternally inherited splice site mutation at the donor site of intron 35 (c.4651+1G-A; <a href="#0006">600805.0006</a>) and a maternally inherited missense mutation (I17N; <a href="#0009">600805.0009</a>) in the laminin alpha-3a isoform. <a href="#4" class="mim-tip-reference" title="Figueira, E. C., Crotty, A., Challinor, C. J., Coroneo, M. T., Murrell, D. F. <strong>Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome.</strong> Clin. Exp. Ophthal. 35: 163-166, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17362460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17362460</a>] [<a href="https://doi.org/10.1111/j.1442-9071.2006.01436.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17362460">Figueira et al. (2007)</a> noted that the case was unique in having several features of LOCS (eyelid and laryngeal granulation tissue) and mutations in both the laminin alpha-3 and laminin alpha-3a isoforms, providing evidence that LOC is a variant of JEB. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17362460" 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 Iranian sibs with LOCS, <a href="#1" class="mim-tip-reference" title="Barzegar, M., Mozafari, N., Kariminejad, A., Asadikani, Z., Ozoemena, L., McGrath, J. A. <strong>A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome.</strong> Brit. J. Derm. 169: 1353-1356, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23869449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23869449</a>] [<a href="https://doi.org/10.1111/bjd.12522" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23869449">Barzegar et al. (2013)</a> identified homozygosity for a nonsense mutation (G57X; <a href="#0007">600805.0007</a>) in the LAMA3 gene. The variation affects only the laminin alpha-3a transcript. Two unaffected sibs as well as both parents were heterozygous for this mutation. The mutation occurred 18 basepairs downstream from the 151insG mutation (<a href="#0004">600805.0004</a>) described by <a href="#11" class="mim-tip-reference" title="McLean, W. H. I., Irvine, A. D., Hamill, K. J., Whittock, N. V., Coleman-Campbell, C. M., Mellerio, J. E., Ashton, G. S., Dopping-Hepenstal, P. J. H., Eady, R. A. J., Jamil, T., Phillips, R. J., Shabbir, S. G., Haroon, T. S., Khurshid, K., Moore, J. E., Page, B., Darling, J., Atherton, D. J., van Steensel, M. A. M., Munro, C. S., Smith, F. J. D., McGrath, J. A. <strong>An unusual N-terminal deletion of the laminin alpha-3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.</strong> Hum. Molec. Genet. 12: 2395-2409, 2003. Note: Erratum: Hum. Molec. Genet. 13: 365 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12915477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12915477</a>] [<a href="https://doi.org/10.1093/hmg/ddg234" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12915477">McLean et al. (2003)</a> in the original Punjab families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23869449+12915477" 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 proband and brother with a phenotype most closely resembling LOCS, <a href="#18" class="mim-tip-reference" title="Wang, R., Sun, L., Habulieti, X., Liu, J., Guo, K., Yang, X., Ma, D., Zhang, X. <strong>Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families.</strong> Front. Med. 16: 808-814, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35314946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35314946</a>] [<a href="https://doi.org/10.1007/s11684-021-0878-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35314946">Wang et al. (2022)</a> identified a homozygous nonsense mutation in the LAMA3 gene (W16X; <a href="#0008">600805.0008</a>). The W16X variant is located in exon 1 of the laminin alpha-3a (LAMA3A) transcript, specific to LAMA3A and corresponding to exon 39 of the full-length LAMA3 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35314946" 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="#13" class="mim-tip-reference" title="Ryan, M. C., Lee, K., Miyashita, Y., Carter, W. G. <strong>Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells.</strong> J. Cell Biol. 145: 1309-1323, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10366601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10366601</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10366601[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/10.1083/jcb.145.6.1309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10366601">Ryan et al. (1999)</a> observed that mice with a targeted disruption of the mouse Lama3 gene had profound epithelial abnormalities resulting in neonatal lethality. The Lama3-null animals developed junctional blisters in the skin caused by a separation at the dermal-epidermal junction, similar to that observed in human Herlitz junctional epidermolysis bullosa. Transmission electron microscopic studies showed that ablation of the Lama3 gene perturbed the formation of hemidesmosomes, which normally link the laminin-5-rich basement membrane to the keratin cytoskeleton, and disrupted the functional interaction between laminin-5 and integrin alpha-6/beta-4 (see <a href="/entry/147557">147557</a>). Using tissue adhesion assays, <a href="#13" class="mim-tip-reference" title="Ryan, M. C., Lee, K., Miyashita, Y., Carter, W. G. <strong>Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells.</strong> J. Cell Biol. 145: 1309-1323, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10366601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10366601</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10366601[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/10.1083/jcb.145.6.1309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10366601">Ryan et al. (1999)</a> determined that in the absence of laminin-5, basal cells utilized integrin alpha-3/beta-1 (see <a href="/entry/605025">605025</a>) to interact with an alternative basement membrane ligand. Using in vitro studies, <a href="#13" class="mim-tip-reference" title="Ryan, M. C., Lee, K., Miyashita, Y., Carter, W. G. <strong>Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells.</strong> J. Cell Biol. 145: 1309-1323, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10366601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10366601</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10366601[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/10.1083/jcb.145.6.1309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10366601">Ryan et al. (1999)</a> concluded that laminin-5-deficient epithelial cells have a survival disadvantage when compared with wildtype cells and identified conditions that allow for the rescue of mutant cells. <a href="#13" class="mim-tip-reference" title="Ryan, M. C., Lee, K., Miyashita, Y., Carter, W. G. <strong>Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells.</strong> J. Cell Biol. 145: 1309-1323, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10366601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10366601</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10366601[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/10.1083/jcb.145.6.1309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10366601">Ryan et al. (1999)</a> proposed that laminin-5 has an important role in regulating tissue organization, gene expression, and survival of epithelium. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10366601" 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>Short interspersed elements (SINEs) are highly abundant components of mammalian genomes that are propagated by retrotransposition. SINEs are recognized as a causal agent of human disease, e.g., the insertion causing Fukuyama congenital muscular dystrophy (<a href="/entry/253800#0001">253800.0001</a>), and must also have had a profound influence in shaping eukaryotic genomes. The B2 SINE family constitutes approximately 0.7% of total mouse genomic DNA and is also found at low abundance in humans (<a href="#8" class="mim-tip-reference" title="Mayorov, V. I., Rogozin, I. B., Elisaphenko, E. A., Adkison, L. R. <strong>B2 elements present in the human genome.</strong> Mammalian Genome 11: 177-179, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10656935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10656935</a>] [<a href="https://doi.org/10.1007/s003350010033" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10656935">Mayorov et al., 2000</a>) It resembles the Alu family in several respects, such as its mechanism of propagation. B2 SINEs are derived from tRNA and are transcribed by RNA polymerase (pol) III to generate short transcripts that are not translated. <a href="#3" class="mim-tip-reference" title="Ferrigno, O., Virolle, T., Djabari, Z., Ortonne, J.-P., White, R. J., Aberdam, D. <strong>Transposable B2 SINE elements can provide mobile RNA polymerase II promoters.</strong> Nature Genet. 28: 77-81, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11326281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11326281</a>] [<a href="https://doi.org/10.1038/ng0501-77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11326281">Ferrigno et al. (2001)</a> found, however, that 1 B2 SINE also carries an active pol II promoter located outside the tRNA region. They found that a B2 element was responsible for the production of a mouse Lama3 transcript. The B2 pol II promoters can be bound and stimulated by the transcription factor USF (see USF1, <a href="/entry/191523">191523</a>), as shown by transient transfection experiments. Moreover, this pol II activity does not preclude the pol III transcription necessary for retrotransposition. Dispersal of B2 SINEs by retrotransposition may therefore have provided numerous opportunities for creating regulated pol II transcription at novel genomic sites. This mechanism may have allowed the evolution of new transcription units and new genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10656935+11326281" 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>Using exon-specific PCR, <a href="#6" class="mim-tip-reference" title="Graves, K. T., Henney, P. J., Ennis, R. B. <strong>Partial deletion of the LAMA3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred Horse.</strong> Animal Genet. 40: 35-41, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19016681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19016681</a>] [<a href="https://doi.org/10.1111/j.1365-2052.2008.01795.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19016681">Graves et al. (2008)</a> identified homozygous deletion of 6589 bp spanning exons 24 to 27 of the Lama3 gene in 10 American Saddlebred foals with junctional epidermolysis bullosa. All 10 obligate carriers were heterozygous for the deletion. The mutant Lama3 protein was predicted to lack 169 amino acids, including 111 amino acids in the LG2 domain and the first 15 amino acids of the LG3 domain. Random sampling of 175 American Saddlebreds revealed 9 that were heterozygous for the mutation, resulting in an allele frequency of 0.026 and a carrier frequency of 0.051. Assuming Hardy-Weinberg equilibrium, the expected frequency of homozygous affected foals was 0.0007. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19016681" 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>By SNP array genotyping and autozygosity mapping in 4 Belgian Blue calves with severe epidermolysis bullosa, <a href="#15" class="mim-tip-reference" title="Sartelet, A., Harland, C., Tamma, N., Karim, L., Bayrou, C., Li, W., Ahariz, N., Coppieters, W., Georges, M., Charlier, C. <strong>A stop-gain in the laminin, alpha 3 gene causes recessive junctional epidermolysis bullosa in Belgian Blue cattle.</strong> Animal Genet. 46: 566-570, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26370913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26370913</a>] [<a href="https://doi.org/10.1111/age.12342" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26370913">Sartelet et al. (2015)</a> mapped the causative gene to an 8.3-Mb interval on bovine chromosome 24, which is orthologous to human chromosome 18. Whole-genome sequencing of an affected calf, transcriptomic data from a panel of tissues, and sequencing of positional candidates identified a G-A transition in exon 60 of the Lama3 gene that replaced arg2609 with a premature stop codon (R2609X) and truncated the Lama3 protein by 22%. Screening a cohort of 3,000 animals revealed a carrier frequency of approximately 1%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26370913" 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 patient with Herlitz junctional epidermolysis bullosa (JEB2B; <a href="/entry/619784">619784</a>), <a href="#17" class="mim-tip-reference" title="Vidal, F., Baudoin, C., Miquel, C., Galliano, M.-F., Christiano, A. M., Uitto, J., Ortonne, J.-P., Meneguzzi, G. <strong>Cloning of the laminin alpha-3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa.</strong> Genomics 30: 273-280, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8586427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8586427</a>] [<a href="https://doi.org/10.1006/geno.1995.9877" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8586427">Vidal et al. (1995)</a> identified a homozygous 1-bp deletion (300delG) in the LAMA3 gene, resulting in a frameshift and premature termination. The patient's parents were first cousins. Skin biopsies showed drastically reduced immunoreactivity to antibodies directed against the alpha-3 chain of laminin-5 and impaired expression of the corresponding mRNA transcripts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8586427" 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> rs137852757 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852757;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/rs137852757?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=rs137852757" 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=rs137852757" 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=RCV000009337 OR RCV001781210 OR RCV002051619 OR RCV005003348" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009337, RCV001781210, RCV002051619, RCV005003348" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009337...</a>
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<p>In a male infant with the lethal Herlitz form of junctional epidermolysis bullosa (JEB2B; <a href="/entry/619784">619784</a>), <a href="#7" class="mim-tip-reference" title="Kivirikko, S., McGrath, J. A., Baudoin, C., Aberdam, D., Ciatti, S., Dunnill, M. G. S., McMillan, J. R., Eady, R. A. J., Ortonne, J.-P., Meneguzzi, G., Uitto, J., Christiano, A. M. <strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.</strong> Hum. Molec. Genet. 4: 959-962, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7633458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7633458</a>] [<a href="https://doi.org/10.1093/hmg/4.5.959" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7633458">Kivirikko et al. (1995)</a> identified a homozygous mutation in the LAMA3 gene, resulting in an arg650-to-ter (R650X) substitution. The child was born of consanguineous Asian parents and died in early infancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7633458" 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 Pakistani infant with Herlitz junctional epidermolysis bullosa, whose parents were consanguineous, <a href="#10" class="mim-tip-reference" title="McGrath, J. A., Kivirikko, S., Ciatti, S., Moss, C., Dunnill, M. G. S., Eady, R. A. J., Rodeck, C. H., Christiano, A. M., Uitto, J. <strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.</strong> Genomics 29: 282-284, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530087</a>] [<a href="https://doi.org/10.1006/geno.1995.1246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8530087">McGrath et al. (1995)</a> identified a homozygous 1948C-T transition in the LAMA3 gene, resulting in an R650X substitution. <a href="#9" class="mim-tip-reference" title="McGrath, J. A., Kivirikko, S., Ciatti, S., Moss, C., Christiano, A. M., Uitto, J. <strong>A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect.</strong> J. Invest. Derm. 106: 781-784, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8618022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8618022</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12346349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8618022">McGrath et al. (1996)</a> found the same mutation in another Pakistani child with Herlitz JEB whose parents were first cousins. Studies in this family and in 2 other apparently unrelated individuals of Pakistani ancestry with the same mutation showed that all had the same haplotype, suggesting a common ancestral allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8618022+8530087" 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">rs137852758 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852758;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852758" 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=rs137852758" 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=RCV002051620 OR RCV003989282" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002051620, RCV003989282" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002051620...</a>
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<p>In a 15-month-old Saudi Arabian girl with non-Herlitz type junctional epidermolysis bullosa (JEB2A; <a href="/entry/619783">619783</a>), <a href="#12" class="mim-tip-reference" title="Nakano, A., Chao, S.-C., Pulkkinen, L., Murrell, D., Bruckner-Tuderman, L., Pfendner, E., Uitto, J. <strong>Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes.</strong> Hum. Genet. 110: 41-51, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810295</a>] [<a href="https://doi.org/10.1007/s00439-001-0630-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810295">Nakano et al. (2002)</a> found homozygosity for a gln1368-to-ter (Q1368X) mutation in the LAMA3 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11810295" 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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<strong>.0004 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2C, LARYNGOONYCHOCUTANEOUS</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80356678 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356678;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80356678" 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=rs80356678" 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=RCV000009339 OR RCV000020425 OR RCV001852701" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009339, RCV000020425, RCV001852701" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009339...</a>
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<p>In affected members of 15 consanguineous Punjabi families with laryngoonychocutaneous syndrome (JEB2C; <a href="/entry/245660">245660</a>), <a href="#11" class="mim-tip-reference" title="McLean, W. H. I., Irvine, A. D., Hamill, K. J., Whittock, N. V., Coleman-Campbell, C. M., Mellerio, J. E., Ashton, G. S., Dopping-Hepenstal, P. J. H., Eady, R. A. J., Jamil, T., Phillips, R. J., Shabbir, S. G., Haroon, T. S., Khurshid, K., Moore, J. E., Page, B., Darling, J., Atherton, D. J., van Steensel, M. A. M., Munro, C. S., Smith, F. J. D., McGrath, J. A. <strong>An unusual N-terminal deletion of the laminin alpha-3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.</strong> Hum. Molec. Genet. 12: 2395-2409, 2003. Note: Erratum: Hum. Molec. Genet. 13: 365 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12915477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12915477</a>] [<a href="https://doi.org/10.1093/hmg/ddg234" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12915477">McLean et al. (2003)</a> identified a 1-bp insertion (151insG) in the LAMA3 gene that caused a frameshift and a predicted stop codon in an exon that is specific to the laminin alpha-3a isoform. The mutation did not result in nonsense-mediated mRNA decay due to rescue of the transcript by an alternative translation start site 6 exons downstream. The resultant N-terminal deletion of laminin alpha-3a was confirmed by immunoprecipitation of secreted proteins from LOC keratinocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12915477" 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 33-month-old Caucasian boy (patient 27) with intermediate junctional epidermolysis bullosa 2A (JEB2A; <a href="/entry/619783">619783</a>), <a href="#12" class="mim-tip-reference" title="Nakano, A., Chao, S.-C., Pulkkinen, L., Murrell, D., Bruckner-Tuderman, L., Pfendner, E., Uitto, J. <strong>Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes.</strong> Hum. Genet. 110: 41-51, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810295</a>] [<a href="https://doi.org/10.1007/s00439-001-0630-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810295">Nakano et al. (2002)</a> detected compound heterozygosity for mutations in the LAMA3 gene: an arg1331-to-cys (R1331C) substitution, and a splice site mutation at the donor site of intron 35 (c.4651+1G-A; <a href="#0006">600805.0006</a>). The mutations affected globular domains III and V, respectively, of the alpha-3 chain. RT-PCR of patient keratinocytes demonstrated that the c.4651+1G-A mutation results in several alternatively spliced laminin alpha-3 polypeptides, some of which appeared to be functional. <a href="#12" class="mim-tip-reference" title="Nakano, A., Chao, S.-C., Pulkkinen, L., Murrell, D., Bruckner-Tuderman, L., Pfendner, E., Uitto, J. <strong>Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes.</strong> Hum. Genet. 110: 41-51, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810295</a>] [<a href="https://doi.org/10.1007/s00439-001-0630-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810295">Nakano et al. (2002)</a> concluded that the combination of c.4651+1G-A and a missense mutation (R1331C), both in the C terminus, could explain the relatively mild phenotype of the patient. The boy had blisters on his face, oral mucosa, and nail beds, with no scars or milia. Electron microscopy revealed normal hemidesmosomes, and immunofluorescence of skin biopsy showed normal laminin-5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11810295" 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="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002273910 OR RCV003445158" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002273910, RCV003445158" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002273910...</a>
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<p><strong><em>Intermediate Junctional Epidermolysis Bullosa 2A</em></strong></p><p>
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For discussion of the splice donor mutation (c.4651+1G-A) in intron 35 of the LAMA3 gene that was found in compound heterozygous state in a patient with intermediate junctional epidermolysis bullosa 2A (JEB2A; <a href="/entry/619783">619783</a>) by <a href="#12" class="mim-tip-reference" title="Nakano, A., Chao, S.-C., Pulkkinen, L., Murrell, D., Bruckner-Tuderman, L., Pfendner, E., Uitto, J. <strong>Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes.</strong> Hum. Genet. 110: 41-51, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810295</a>] [<a href="https://doi.org/10.1007/s00439-001-0630-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810295">Nakano et al. (2002)</a>, see <a href="#0005">600805.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11810295" 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><strong><em>Laryngoonychocutaneous Junctional Epidermolysis Bullosa 2C</em></strong></p><p>
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In a 7-year-old boy with laryngoonychocutaneous junctional epidermolysis bullosa 2C (JEB2C; <a href="/entry/245660">245660</a>) <a href="#4" class="mim-tip-reference" title="Figueira, E. C., Crotty, A., Challinor, C. J., Coroneo, M. T., Murrell, D. F. <strong>Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome.</strong> Clin. Exp. Ophthal. 35: 163-166, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17362460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17362460</a>] [<a href="https://doi.org/10.1111/j.1442-9071.2006.01436.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17362460">Figueira et al. (2007)</a> identified compound heterozygosity for mutations in the LAMA3 gene: a paternally inherited splice site mutation at the donor site of intron 35 (c.4651+1G-A), and a maternally inherited missense mutation, ile17-to-asn (<a href="#0009">600805.0009</a>), that affected the laminin alpha-3a (LAMA3A) isoform. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17362460" 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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<strong>.0007 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2C, LARYNGOONYCHOCUTANEOUS</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002286451" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002286451" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002286451</a>
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<p>In 2 Iranian sibs with laryngoonychocutaneous junctional epidermolysis bullosa 2C (JEB2C; <a href="/entry/245660">245660</a>), <a href="#1" class="mim-tip-reference" title="Barzegar, M., Mozafari, N., Kariminejad, A., Asadikani, Z., Ozoemena, L., McGrath, J. A. <strong>A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome.</strong> Brit. J. Derm. 169: 1353-1356, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23869449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23869449</a>] [<a href="https://doi.org/10.1111/bjd.12522" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23869449">Barzegar et al. (2013)</a> identified homozygosity for a C-to-T substitution at nucleotide 169 (c.169C-T) in exon 39 of the LAMA3 gene (exon 1 of the laminin alpha-3a isoform), changing glutamine-57 of the laminin alpha-3a transcript to a stop codon (G57X). Two unaffected sibs as well as both parents were heterozygous carriers of this mutation. Functional studies of the mutation or of patient cells were not performed. The c.169C-T mutation occurs 18 basepairs downstream from the c.151insG mutation (<a href="#0004">600805.0004</a>) described by <a href="#11" class="mim-tip-reference" title="McLean, W. H. I., Irvine, A. D., Hamill, K. J., Whittock, N. V., Coleman-Campbell, C. M., Mellerio, J. E., Ashton, G. S., Dopping-Hepenstal, P. J. H., Eady, R. A. J., Jamil, T., Phillips, R. J., Shabbir, S. G., Haroon, T. S., Khurshid, K., Moore, J. E., Page, B., Darling, J., Atherton, D. J., van Steensel, M. A. M., Munro, C. S., Smith, F. J. D., McGrath, J. A. <strong>An unusual N-terminal deletion of the laminin alpha-3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.</strong> Hum. Molec. Genet. 12: 2395-2409, 2003. Note: Erratum: Hum. Molec. Genet. 13: 365 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12915477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12915477</a>] [<a href="https://doi.org/10.1093/hmg/ddg234" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12915477">McLean et al. (2003)</a> in the Punjab families originally described with laryngoonychocutaneous syndrome (LOC). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23869449+12915477" 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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<strong>.0008 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2C, LARYNGOONYCHOCUTANEOUS</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002286452" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002286452" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002286452</a>
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<p>In 2 Chinese brothers with a phenotype resembling laryngoonychocutaneous junctional epidermolysis bullosa 2C (JEB2C; <a href="/entry/245660">245660</a>), <a href="#18" class="mim-tip-reference" title="Wang, R., Sun, L., Habulieti, X., Liu, J., Guo, K., Yang, X., Ma, D., Zhang, X. <strong>Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families.</strong> Front. Med. 16: 808-814, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35314946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35314946</a>] [<a href="https://doi.org/10.1007/s11684-021-0878-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35314946">Wang et al. (2022)</a> identified a homozygous c.47G-A transition (c.47G-A, NM_000227.4) in exon 1 of the LAMA3A transcript (exon 39 of the LAMA3 gene) that caused a trp16-to-ter substitution (W16X). The mutation was identified using whole-exome sequencing and confirmed by Sanger sequencing. Real-time quantitative PCR showed that LAMA3A mRNA levels in the proband and brother were reduced to approximately 23% and 28%, respectively, of control values. Western blot analysis revealed that the LAMA3A protein was significantly reduced in the brothers compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35314946" 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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<strong>.0009 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2C, LARYNGOONYCHOCUTANEOUS</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1052659025 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1052659025;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1052659025" 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=rs1052659025" 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=RCV003445438 OR RCV004526985" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003445438, RCV004526985" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003445438...</a>
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<p>For discussion of the ile17-to-asn (I17N) mutation in the LAMA3A gene that was found in compound heterozygous state in a patient with laryngoonychocutaneous junctional epidermolysis bullosa 2C (JEB2C; <a href="/entry/245660">245660</a>) by <a href="#4" class="mim-tip-reference" title="Figueira, E. C., Crotty, A., Challinor, C. J., Coroneo, M. T., Murrell, D. F. <strong>Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome.</strong> Clin. Exp. Ophthal. 35: 163-166, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17362460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17362460</a>] [<a href="https://doi.org/10.1111/j.1442-9071.2006.01436.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17362460">Figueira et al. (2007)</a>, see <a href="#0006">600805.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17362460" 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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<strong>REFERENCES</strong>
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Barzegar, M., Mozafari, N., Kariminejad, A., Asadikani, Z., Ozoemena, L., McGrath, J. A.
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<strong>A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome.</strong>
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Brit. J. Derm. 169: 1353-1356, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23869449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23869449</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23869449" 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/10.1111/bjd.12522" target="_blank">Full Text</a>]
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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: <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://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'})">related citations</a>]
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Ferrigno, O., Virolle, T., Djabari, Z., Ortonne, J.-P., White, R. J., Aberdam, D.
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<strong>Transposable B2 SINE elements can provide mobile RNA polymerase II promoters.</strong>
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Nature Genet. 28: 77-81, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11326281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11326281</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11326281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Figueira, E. C., Crotty, A., Challinor, C. J., Coroneo, M. T., Murrell, D. F.
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<strong>Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome.</strong>
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Clin. Exp. Ophthal. 35: 163-166, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17362460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17362460</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17362460" 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/10.1111/j.1442-9071.2006.01436.x" target="_blank">Full Text</a>]
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Fine, J.-D., Eady, R. A. J., Bauer, E. A., Bauer, J. W., Bruckner-Tuderman, L., Heagerty, A., Hintner, H., Hovnanian, A., Jonkman, M. F., Leigh, I., McGrath, J. A., Mellerio, J. E., Murrell, D. F., Shimizu, H., Uitto, J., Vahlquist, A., Woodley, D., Zambruno, G.
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<strong>The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on diagnosis and classification of EB.</strong>
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J. Am. Acad. Derm. 58: 931-950, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18374450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18374450</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18374450" 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.jaad.2008.02.004" target="_blank">Full Text</a>]
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<strong>Partial deletion of the LAMA3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred Horse.</strong>
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[<a href="https://doi.org/10.1111/j.1365-2052.2008.01795.x" target="_blank">Full Text</a>]
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<strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.</strong>
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[<a href="https://doi.org/10.1093/hmg/4.5.959" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s003350010033" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/1523-1747.ep12346349" target="_blank">Full Text</a>]
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<strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.</strong>
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Genomics 29: 282-284, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530087</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8530087" 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/10.1006/geno.1995.1246" target="_blank">Full Text</a>]
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McLean, W. H. I., Irvine, A. D., Hamill, K. J., Whittock, N. V., Coleman-Campbell, C. M., Mellerio, J. E., Ashton, G. S., Dopping-Hepenstal, P. J. H., Eady, R. A. J., Jamil, T., Phillips, R. J., Shabbir, S. G., Haroon, T. S., Khurshid, K., Moore, J. E., Page, B., Darling, J., Atherton, D. J., van Steensel, M. A. M., Munro, C. S., Smith, F. J. D., McGrath, J. A.
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<strong>An unusual N-terminal deletion of the laminin alpha-3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.</strong>
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[<a href="https://doi.org/10.1093/hmg/ddg234" target="_blank">Full Text</a>]
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<strong>Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes.</strong>
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[<a href="https://doi.org/10.1007/s00439-001-0630-1" target="_blank">Full Text</a>]
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Ryan, M. C., Lee, K., Miyashita, Y., Carter, W. G.
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<strong>Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10366601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10366601</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10366601[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=10366601" 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/10.1083/jcb.145.6.1309" target="_blank">Full Text</a>]
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Ryan, M. C., Tizard, R., VanDevanter, D. R., Carter, W. G.
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<strong>Cloning of the LamA3 gene encoding the alpha-3 chain of the adhesive ligand epiligrin: expression in wound repair.</strong>
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<strong>A stop-gain in the laminin, alpha 3 gene causes recessive junctional epidermolysis bullosa in Belgian Blue cattle.</strong>
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Animal Genet. 46: 566-570, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26370913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26370913</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26370913" 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/10.1111/age.12342" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1046/j.1365-2133.1999.02773.x" target="_blank">Full Text</a>]
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Vidal, F., Baudoin, C., Miquel, C., Galliano, M.-F., Christiano, A. M., Uitto, J., Ortonne, J.-P., Meneguzzi, G.
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<strong>Cloning of the laminin alpha-3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa.</strong>
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Genomics 30: 273-280, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8586427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8586427</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8586427" 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/10.1006/geno.1995.9877" target="_blank">Full Text</a>]
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Wang, R., Sun, L., Habulieti, X., Liu, J., Guo, K., Yang, X., Ma, D., Zhang, X.
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<strong>Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35314946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35314946</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35314946" 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/s11684-021-0878-x" target="_blank">Full Text</a>]
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Kelly A. Przylepa - updated : 12/04/2023
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Kelly A. Przylepa - updated : 09/27/2022<br>Anne M. Stumpf - updated : 08/03/2022<br>Patricia A. Hartz - updated : 11/16/2017<br>Cassandra L. Kniffin - updated : 7/1/2008<br>George E. Tiller - updated : 10/15/2003<br>Dawn Watkins-Chow - updated : 7/30/2002<br>Carol A. Bocchini - updated : 2/15/2002<br>Victor A. McKusick - updated : 4/24/2001<br>Alan F. Scott - updated : 1/15/1997
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Victor A. McKusick : 10/3/1995
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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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alopez : 12/07/2022<br>carol : 09/29/2022<br>carol : 09/28/2022<br>alopez : 09/28/2022<br>alopez : 09/27/2022<br>alopez : 09/27/2022<br>alopez : 08/03/2022<br>alopez : 03/29/2022<br>mgross : 11/16/2017<br>carol : 09/16/2013<br>carol : 7/8/2008<br>ckniffin : 7/1/2008<br>carol : 1/22/2007<br>carol : 11/28/2006<br>cwells : 11/10/2003<br>cwells : 10/15/2003<br>tkritzer : 7/30/2002<br>tkritzer : 7/30/2002<br>carol : 2/22/2002<br>terry : 2/15/2002<br>carol : 2/15/2002<br>cwells : 5/4/2001<br>terry : 4/24/2001<br>dkim : 7/2/1998<br>mark : 9/1/1997<br>terry : 1/15/1997<br>mark : 6/12/1996<br>terry : 6/4/1996<br>mark : 2/19/1996<br>terry : 2/15/1996<br>mark : 1/15/1996<br>mark : 12/18/1995<br>terry : 12/6/1995<br>mimadm : 11/3/1995<br>terry : 10/30/1995<br>mark : 10/3/1995
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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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</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> 600805
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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, ALPHA-3; LAMA3
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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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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LAMININ A3<br />
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LAMININ 5, ALPHA-3 SUBUNIT<br />
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LAM5, ALPHA-3 SUBUNIT<br />
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EPILIGRIN, 170-KD SUBUNIT<br />
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BM600
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</span>
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</h4>
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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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<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: LAMA3</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>SNOMEDCT:</strong> 722675000;
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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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<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: 18q11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 18:23,689,453-23,955,066 </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="3">
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<span class="mim-font">
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18q11.2
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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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Epidermolysis bullosa, junctional 2A, intermediate
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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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619783
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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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<tr>
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<td>
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<span class="mim-font">
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Epidermolysis bullosa, junctional 2B, severe
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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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619784
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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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<tr>
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<td>
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<span class="mim-font">
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Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous
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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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245660
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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>Laminin-5 (LAM5) is an isoform within the laminin family of proteins that is composed of 3 distinct polypeptides, the alpha-3, beta-3 (LAMB3; 150310), and gamma-2 (LAMC2; 150292) chains, according to the nomenclature of Burgeson et al. (1994). Laminin-5 has also been referred to as nicein, kalinin, and epiligrin (Ryan et al., 1994). </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>Ryan et al. (1994) isolated cDNA clones encoding the 170-kD chain of epiligrin and a genomic clone encoding the LAMA3 gene. Analysis of multiple cDNA clones revealed 2 distinct transcripts. </p><p>Vidal et al. (1995) isolated a cDNA clone corresponding to the LAMA3 gene. The authors also reported the identity of the alpha chains of laminin-5, and provided evidence that LAMA3 transcripts are distinct from the laminin-6 alpha chain mRNA. In epithelial basement membranes, laminin-5 and laminin-6 form a complex that functions as a cell adhesion ligand for integrins, and it had been suggested that laminins 5 and 6 may share the same alpha chain. </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>Mapping</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>By fluorescence in situ hybridization, Ryan et al. (1994) mapped the LAMA3 gene to chromosome 18q11.2, a locus distinct from the LAMA1 gene (150320), which is located on 18p11.3. </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 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>Taniuchi et al. (1999) described a 61-year-old patient with acquired circulating autoantibodies to epiligrin (laminin-5) and cicatricial pemphigoid associated with advanced gastric carcinoma. Immunofluorescence microscopy and immunoprecipitation studies demonstrated that the gastric carcinoma cells in this patient produced laminin-5, and that the patient's serum contained autoantibodies directed against laminin-5. The blistering symptoms and the titer of antibasement membrane zone antibodies coordinately changed with the resection and subsequent relapse of the gastric cancer. Taniuchi et al. (1999) concluded that cicatricial pemphigoid in this patient was a paraneoplastic disorder. </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>Molecular Genetics</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><strong><em>Intermediate Junctional Epidermolysis Bullosa 2A</em></strong></p><p>
|
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Nakano et al. (2002) identified mutations in the LAMA3 gene in patients with non-Herlitz junctional epidermolysis bullosa (JEB2A; 619783); see, e.g., 600805.0003. </p><p><strong><em>Severe Junctional Epidermolysis Bullosa 2B</em></strong></p><p>
|
|
In a boy with the lethal Herlitz form of junctional epidermolysis bullosa (JEB2B; 619784), Kivirikko et al. (1995) identified a homozygous nonsense mutation in the LAMA3 gene (R650X; 600805.0002). The infant was born of consanguineous Asian parents and died in early infancy. </p><p>McGrath et al. (1995) identified a homozygous R650X mutation in a child with Herlitz JEB who was born of consanguineous Pakistani parents. The patient presented at birth with extensive blisters and erosions. Electron microscopy of the skin revealed scanty, rudimentary hemidesmosome-anchoring filament complexes and tissue separation within the lamina lucida. Immunofluorescence staining of the basement membrane zone with an anti-laminin-5 antibody revealed absent labeling. Both unaffected parents were heterozygous mutation carriers. Fetal DNA extracted from a chorionic villus biopsy obtained at 10 weeks' gestation in a subsequent pregnancy showed that the fetus was not affected. </p><p><strong><em>Laryngoonychocutaneous Junctional Epidermolysis Bullosa 2C</em></strong></p><p>
|
|
Laryngoonychocutaneous junctional epidermolysis bullosa 2C (JEB2C; 245660), also known as laryngoonychocutaneous or Shabbir syndrome (LOCS), is an autosomal recessive epithelial disorder confined to the Punjabi Muslim population. McLean et al. (2003) localized the gene for LOCS to a 2-Mb region on chromosome 18q11.2 (lod = 19.8 at theta = 0), which includes the LAMA3 gene. The authors determined that 3 distinct isoforms of the LAMA3 gene product were expressed due to differential splicing, which they designated laminin alpha-3a, alpha-3b1, and alpha-3b2. A causative LAMA3 mutation was identified in 15 consanguineous Punjabi LOCS families, consisting of a frameshift mutation (151insG; 600805.0004) predicting a stop codon in an exon that is specific to LAMA3. This protein is secreted only by the basal keratinocytes of stratified epithelia, implying that LOCS may be caused by dysfunction of keratinocyte-mesenchymal communication. The authors hypothesized that the laminin alpha-3a N-terminal domain may be a key regulator of the granulation tissue response. Fine et al. (2008) noted that Shabbir syndrome is considered to be a variant of JEB. </p><p>Figueira et al. (2007) described a 7-year-old Caucasian boy with overlapping features of JEB and LOCS. They identified compound heterozygosity for mutations in the LAMA3 gene: a paternally inherited splice site mutation at the donor site of intron 35 (c.4651+1G-A; 600805.0006) and a maternally inherited missense mutation (I17N; 600805.0009) in the laminin alpha-3a isoform. Figueira et al. (2007) noted that the case was unique in having several features of LOCS (eyelid and laryngeal granulation tissue) and mutations in both the laminin alpha-3 and laminin alpha-3a isoforms, providing evidence that LOC is a variant of JEB. </p><p>In 2 Iranian sibs with LOCS, Barzegar et al. (2013) identified homozygosity for a nonsense mutation (G57X; 600805.0007) in the LAMA3 gene. The variation affects only the laminin alpha-3a transcript. Two unaffected sibs as well as both parents were heterozygous for this mutation. The mutation occurred 18 basepairs downstream from the 151insG mutation (600805.0004) described by McLean et al. (2003) in the original Punjab families. </p><p>In a proband and brother with a phenotype most closely resembling LOCS, Wang et al. (2022) identified a homozygous nonsense mutation in the LAMA3 gene (W16X; 600805.0008). The W16X variant is located in exon 1 of the laminin alpha-3a (LAMA3A) transcript, specific to LAMA3A and corresponding to exon 39 of the full-length LAMA3 gene. </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>Animal Model</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>Ryan et al. (1999) observed that mice with a targeted disruption of the mouse Lama3 gene had profound epithelial abnormalities resulting in neonatal lethality. The Lama3-null animals developed junctional blisters in the skin caused by a separation at the dermal-epidermal junction, similar to that observed in human Herlitz junctional epidermolysis bullosa. Transmission electron microscopic studies showed that ablation of the Lama3 gene perturbed the formation of hemidesmosomes, which normally link the laminin-5-rich basement membrane to the keratin cytoskeleton, and disrupted the functional interaction between laminin-5 and integrin alpha-6/beta-4 (see 147557). Using tissue adhesion assays, Ryan et al. (1999) determined that in the absence of laminin-5, basal cells utilized integrin alpha-3/beta-1 (see 605025) to interact with an alternative basement membrane ligand. Using in vitro studies, Ryan et al. (1999) concluded that laminin-5-deficient epithelial cells have a survival disadvantage when compared with wildtype cells and identified conditions that allow for the rescue of mutant cells. Ryan et al. (1999) proposed that laminin-5 has an important role in regulating tissue organization, gene expression, and survival of epithelium. </p><p>Short interspersed elements (SINEs) are highly abundant components of mammalian genomes that are propagated by retrotransposition. SINEs are recognized as a causal agent of human disease, e.g., the insertion causing Fukuyama congenital muscular dystrophy (253800.0001), and must also have had a profound influence in shaping eukaryotic genomes. The B2 SINE family constitutes approximately 0.7% of total mouse genomic DNA and is also found at low abundance in humans (Mayorov et al., 2000) It resembles the Alu family in several respects, such as its mechanism of propagation. B2 SINEs are derived from tRNA and are transcribed by RNA polymerase (pol) III to generate short transcripts that are not translated. Ferrigno et al. (2001) found, however, that 1 B2 SINE also carries an active pol II promoter located outside the tRNA region. They found that a B2 element was responsible for the production of a mouse Lama3 transcript. The B2 pol II promoters can be bound and stimulated by the transcription factor USF (see USF1, 191523), as shown by transient transfection experiments. Moreover, this pol II activity does not preclude the pol III transcription necessary for retrotransposition. Dispersal of B2 SINEs by retrotransposition may therefore have provided numerous opportunities for creating regulated pol II transcription at novel genomic sites. This mechanism may have allowed the evolution of new transcription units and new genes. </p><p>Using exon-specific PCR, Graves et al. (2008) identified homozygous deletion of 6589 bp spanning exons 24 to 27 of the Lama3 gene in 10 American Saddlebred foals with junctional epidermolysis bullosa. All 10 obligate carriers were heterozygous for the deletion. The mutant Lama3 protein was predicted to lack 169 amino acids, including 111 amino acids in the LG2 domain and the first 15 amino acids of the LG3 domain. Random sampling of 175 American Saddlebreds revealed 9 that were heterozygous for the mutation, resulting in an allele frequency of 0.026 and a carrier frequency of 0.051. Assuming Hardy-Weinberg equilibrium, the expected frequency of homozygous affected foals was 0.0007. </p><p>By SNP array genotyping and autozygosity mapping in 4 Belgian Blue calves with severe epidermolysis bullosa, Sartelet et al. (2015) mapped the causative gene to an 8.3-Mb interval on bovine chromosome 24, which is orthologous to human chromosome 18. Whole-genome sequencing of an affected calf, transcriptomic data from a panel of tissues, and sequencing of positional candidates identified a G-A transition in exon 60 of the Lama3 gene that replaced arg2609 with a premature stop codon (R2609X) and truncated the Lama3 protein by 22%. Screening a cohort of 3,000 animals revealed a carrier frequency of approximately 1%. </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>
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>9 Selected Examples):</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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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0001 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE</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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LAMA3, 1-BP DEL, 300G
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<br />
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ClinVar: RCV002051618
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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 patient with Herlitz junctional epidermolysis bullosa (JEB2B; 619784), Vidal et al. (1995) identified a homozygous 1-bp deletion (300delG) in the LAMA3 gene, resulting in a frameshift and premature termination. The patient's parents were first cousins. Skin biopsies showed drastically reduced immunoreactivity to antibodies directed against the alpha-3 chain of laminin-5 and impaired expression of the corresponding mRNA transcripts. </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>.0002 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE</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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LAMA3, ARG650TER
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<br />
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SNP: rs137852757,
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gnomAD: rs137852757,
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ClinVar: RCV000009337, RCV001781210, RCV002051619, RCV005003348
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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>In a male infant with the lethal Herlitz form of junctional epidermolysis bullosa (JEB2B; 619784), Kivirikko et al. (1995) identified a homozygous mutation in the LAMA3 gene, resulting in an arg650-to-ter (R650X) substitution. The child was born of consanguineous Asian parents and died in early infancy. </p><p>In a Pakistani infant with Herlitz junctional epidermolysis bullosa, whose parents were consanguineous, McGrath et al. (1995) identified a homozygous 1948C-T transition in the LAMA3 gene, resulting in an R650X substitution. McGrath et al. (1996) found the same mutation in another Pakistani child with Herlitz JEB whose parents were first cousins. Studies in this family and in 2 other apparently unrelated individuals of Pakistani ancestry with the same mutation showed that all had the same haplotype, suggesting a common ancestral allele. </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>.0003 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE</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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LAMA3, GLN1368TER
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<br />
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|
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SNP: rs137852758,
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ClinVar: RCV002051620, RCV003989282
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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>In a 15-month-old Saudi Arabian girl with non-Herlitz type junctional epidermolysis bullosa (JEB2A; 619783), Nakano et al. (2002) found homozygosity for a gln1368-to-ter (Q1368X) mutation in the LAMA3 gene. </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>
|
|
<span class="mim-font">
|
|
<strong>.0004 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2C, LARYNGOONYCHOCUTANEOUS</strong>
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</span>
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</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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LAMA3, 1-BP INS, 151G
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<br />
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SNP: rs80356678,
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ClinVar: RCV000009339, RCV000020425, RCV001852701
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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>In affected members of 15 consanguineous Punjabi families with laryngoonychocutaneous syndrome (JEB2C; 245660), McLean et al. (2003) identified a 1-bp insertion (151insG) in the LAMA3 gene that caused a frameshift and a predicted stop codon in an exon that is specific to the laminin alpha-3a isoform. The mutation did not result in nonsense-mediated mRNA decay due to rescue of the transcript by an alternative translation start site 6 exons downstream. The resultant N-terminal deletion of laminin alpha-3a was confirmed by immunoprecipitation of secreted proteins from LOC keratinocytes. </p>
|
|
</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>.0005 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE</strong>
|
|
</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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LAMA3, ARG1331CYS
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<br />
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|
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ClinVar: RCV002273909
|
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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 33-month-old Caucasian boy (patient 27) with intermediate junctional epidermolysis bullosa 2A (JEB2A; 619783), Nakano et al. (2002) detected compound heterozygosity for mutations in the LAMA3 gene: an arg1331-to-cys (R1331C) substitution, and a splice site mutation at the donor site of intron 35 (c.4651+1G-A; 600805.0006). The mutations affected globular domains III and V, respectively, of the alpha-3 chain. RT-PCR of patient keratinocytes demonstrated that the c.4651+1G-A mutation results in several alternatively spliced laminin alpha-3 polypeptides, some of which appeared to be functional. Nakano et al. (2002) concluded that the combination of c.4651+1G-A and a missense mutation (R1331C), both in the C terminus, could explain the relatively mild phenotype of the patient. The boy had blisters on his face, oral mucosa, and nail beds, with no scars or milia. Electron microscopy revealed normal hemidesmosomes, and immunofluorescence of skin biopsy showed normal laminin-5. </p>
|
|
</span>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>.0006 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2C, LARYNGOONYCHOCUTANEOUS, INCLUDED
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
LAMA3, IVS35, +1, G-A
|
|
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|
|
|
<br />
|
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|
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|
|
|
|
ClinVar: RCV002273910, RCV003445158
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p />
|
|
<p><strong><em>Intermediate Junctional Epidermolysis Bullosa 2A</em></strong></p><p>
|
|
For discussion of the splice donor mutation (c.4651+1G-A) in intron 35 of the LAMA3 gene that was found in compound heterozygous state in a patient with intermediate junctional epidermolysis bullosa 2A (JEB2A; 619783) by Nakano et al. (2002), see 600805.0005. </p><p><strong><em>Laryngoonychocutaneous Junctional Epidermolysis Bullosa 2C</em></strong></p><p>
|
|
In a 7-year-old boy with laryngoonychocutaneous junctional epidermolysis bullosa 2C (JEB2C; 245660) Figueira et al. (2007) identified compound heterozygosity for mutations in the LAMA3 gene: a paternally inherited splice site mutation at the donor site of intron 35 (c.4651+1G-A), and a maternally inherited missense mutation, ile17-to-asn (600805.0009), that affected the laminin alpha-3a (LAMA3A) isoform. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2C, LARYNGOONYCHOCUTANEOUS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LAMA3, GLN57TER
|
|
|
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|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV002286451
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Iranian sibs with laryngoonychocutaneous junctional epidermolysis bullosa 2C (JEB2C; 245660), Barzegar et al. (2013) identified homozygosity for a C-to-T substitution at nucleotide 169 (c.169C-T) in exon 39 of the LAMA3 gene (exon 1 of the laminin alpha-3a isoform), changing glutamine-57 of the laminin alpha-3a transcript to a stop codon (G57X). Two unaffected sibs as well as both parents were heterozygous carriers of this mutation. Functional studies of the mutation or of patient cells were not performed. The c.169C-T mutation occurs 18 basepairs downstream from the c.151insG mutation (600805.0004) described by McLean et al. (2003) in the Punjab families originally described with laryngoonychocutaneous syndrome (LOC). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2C, LARYNGOONYCHOCUTANEOUS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LAMA3, TRP16TER
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV002286452
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Chinese brothers with a phenotype resembling laryngoonychocutaneous junctional epidermolysis bullosa 2C (JEB2C; 245660), Wang et al. (2022) identified a homozygous c.47G-A transition (c.47G-A, NM_000227.4) in exon 1 of the LAMA3A transcript (exon 39 of the LAMA3 gene) that caused a trp16-to-ter substitution (W16X). The mutation was identified using whole-exome sequencing and confirmed by Sanger sequencing. Real-time quantitative PCR showed that LAMA3A mRNA levels in the proband and brother were reduced to approximately 23% and 28%, respectively, of control values. Western blot analysis revealed that the LAMA3A protein was significantly reduced in the brothers compared to controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2C, LARYNGOONYCHOCUTANEOUS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LAMA3, ILE17ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1052659025,
|
|
|
|
|
|
|
|
ClinVar: RCV003445438, RCV004526985
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the ile17-to-asn (I17N) mutation in the LAMA3A gene that was found in compound heterozygous state in a patient with laryngoonychocutaneous junctional epidermolysis bullosa 2C (JEB2C; 245660) by Figueira et al. (2007), see 600805.0006. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
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|
</div>
|
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|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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|
</span>
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</h4>
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<div>
|
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<p />
|
|
</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">
|
|
Barzegar, M., Mozafari, N., Kariminejad, A., Asadikani, Z., Ozoemena, L., McGrath, J. A.
|
|
<strong>A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome.</strong>
|
|
Brit. J. Derm. 169: 1353-1356, 2013.
|
|
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|
[PubMed: 23869449]
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[Full Text: https://doi.org/10.1111/bjd.12522]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
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>
|
|
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">
|
|
Ferrigno, O., Virolle, T., Djabari, Z., Ortonne, J.-P., White, R. J., Aberdam, D.
|
|
<strong>Transposable B2 SINE elements can provide mobile RNA polymerase II promoters.</strong>
|
|
Nature Genet. 28: 77-81, 2001.
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|
[PubMed: 11326281]
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[Full Text: https://doi.org/10.1038/ng0501-77]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Figueira, E. C., Crotty, A., Challinor, C. J., Coroneo, M. T., Murrell, D. F.
|
|
<strong>Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome.</strong>
|
|
Clin. Exp. Ophthal. 35: 163-166, 2007.
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[PubMed: 17362460]
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[Full Text: https://doi.org/10.1111/j.1442-9071.2006.01436.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Fine, J.-D., Eady, R. A. J., Bauer, E. A., Bauer, J. W., Bruckner-Tuderman, L., Heagerty, A., Hintner, H., Hovnanian, A., Jonkman, M. F., Leigh, I., McGrath, J. A., Mellerio, J. E., Murrell, D. F., Shimizu, H., Uitto, J., Vahlquist, A., Woodley, D., Zambruno, G.
|
|
<strong>The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on diagnosis and classification of EB.</strong>
|
|
J. Am. Acad. Derm. 58: 931-950, 2008.
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[PubMed: 18374450]
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[Full Text: https://doi.org/10.1016/j.jaad.2008.02.004]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Graves, K. T., Henney, P. J., Ennis, R. B.
|
|
<strong>Partial deletion of the LAMA3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred Horse.</strong>
|
|
Animal Genet. 40: 35-41, 2008.
|
|
|
|
|
|
[PubMed: 19016681]
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|
[Full Text: https://doi.org/10.1111/j.1365-2052.2008.01795.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kivirikko, S., McGrath, J. A., Baudoin, C., Aberdam, D., Ciatti, S., Dunnill, M. G. S., McMillan, J. R., Eady, R. A. J., Ortonne, J.-P., Meneguzzi, G., Uitto, J., Christiano, A. M.
|
|
<strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.</strong>
|
|
Hum. Molec. Genet. 4: 959-962, 1995.
|
|
|
|
|
|
[PubMed: 7633458]
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|
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|
|
|
[Full Text: https://doi.org/10.1093/hmg/4.5.959]
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Mayorov, V. I., Rogozin, I. B., Elisaphenko, E. A., Adkison, L. R.
|
|
<strong>B2 elements present in the human genome.</strong>
|
|
Mammalian Genome 11: 177-179, 2000.
|
|
|
|
|
|
[PubMed: 10656935]
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|
|
[Full Text: https://doi.org/10.1007/s003350010033]
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
McGrath, J. A., Kivirikko, S., Ciatti, S., Moss, C., Christiano, A. M., Uitto, J.
|
|
<strong>A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect.</strong>
|
|
J. Invest. Derm. 106: 781-784, 1996.
|
|
|
|
|
|
[PubMed: 8618022]
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|
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|
|
[Full Text: https://doi.org/10.1111/1523-1747.ep12346349]
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</p>
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|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
McGrath, J. A., Kivirikko, S., Ciatti, S., Moss, C., Dunnill, M. G. S., Eady, R. A. J., Rodeck, C. H., Christiano, A. M., Uitto, J.
|
|
<strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.</strong>
|
|
Genomics 29: 282-284, 1995.
|
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|
|
[PubMed: 8530087]
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|
[Full Text: https://doi.org/10.1006/geno.1995.1246]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
McLean, W. H. I., Irvine, A. D., Hamill, K. J., Whittock, N. V., Coleman-Campbell, C. M., Mellerio, J. E., Ashton, G. S., Dopping-Hepenstal, P. J. H., Eady, R. A. J., Jamil, T., Phillips, R. J., Shabbir, S. G., Haroon, T. S., Khurshid, K., Moore, J. E., Page, B., Darling, J., Atherton, D. J., van Steensel, M. A. M., Munro, C. S., Smith, F. J. D., McGrath, J. A.
|
|
<strong>An unusual N-terminal deletion of the laminin alpha-3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.</strong>
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