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Entry
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- *150292 - LAMININ, GAMMA-2; LAMC2
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- OMIM
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<p>
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<span class="h4">*150292</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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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<a href="#mapping">Mapping</a>
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/150292">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 role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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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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<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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<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=ENSG00000058085;t=ENST00000264144" 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=3918" 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=150292" 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="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=ENSG00000058085;t=ENST00000264144" 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_005562,NM_018891,XM_017001273,XM_047420358,XM_047420361" 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_005562" 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=150292" 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=01031&isoform_id=01031_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/LAMC2" 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/34230,34232,452755,1236323,1280520,85566965,90185107,109730447,119611552,119611553,157419138,157419140,194384666,1034558520,2217267371,2217267373,2462509080,2462509082,2462509084,2462509086,2462509088,2462509090,2462509092,2462509094,2462509096" 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/Q13753" 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=3918" 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=ENSG00000058085;t=ENST00000264144" 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=LAMC2" 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=LAMC2" 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+3918" 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/LAMC2" 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:3918" 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/3918" 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=chr1&hgg_gene=ENST00000812173.1&hgg_start=183186264&hgg_end=183258968&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:6493" 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/lamc2" 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=150292[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=150292[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/ENSG00000058085" 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=LAMC2" 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=LAMC2" 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=LAMC2" 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=LAMC2&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/PA30281" 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:6493" 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/FBgn0267348.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:99913" 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/LAMC2#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:99913" 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/3918/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/OMIA001678/" 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=3918" 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=WBGene00016913;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-110222-3" 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="mimCellLines">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:150292" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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:3918" 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=LAMC2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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150292
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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, GAMMA-2; LAMC2
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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">
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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 B2 POLYPEPTIDE, TRUNCATED<br />
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LAMB2, TRUNCATED; LAMB2T<br />
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KALININ<br />
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LAMININ, NICEIN, BETA-2; LAMNB2<br />
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LAMININ 5, GAMMA-2 SUBUNIT<br />
|
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LAM5, GAMMA-2 SUBUNIT
|
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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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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=LAMC2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">LAMC2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/1/1487?start=-3&limit=10&highlight=1487">1q25.3</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:183186264-183258968&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'})">1:183,186,264-183,258,968</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<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">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
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|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=619785,619786" 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="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/1487?start=-3&limit=10&highlight=1487">
|
|
1q25.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Epidermolysis bullosa, junctional 3A, intermediate
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/619785"> 619785 </a>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
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<a href="/entry/619786"> 619786 </a>
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PheneGene Graphics <span class="caret"></span>
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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 (LAMA3; <a href="/entry/600805">600805</a>), beta-3 (LAMB3; <a href="/entry/150310">150310</a>), and gamma-2 (LAMC2) chains, according to the nomenclature of <a href="#5" 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="#10" 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="#7" class="mim-tip-reference" title="Kallunki, P., Sainio, K., Eddy, R., Byers, M., Kallunki, T., Sariola, H., Beck, K., Hirvonen, H., Shows, T. B., Tryggvason, K. <strong>A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment.</strong> J. Cell Biol. 119: 679-693, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1383240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1383240</a>] [<a href="https://doi.org/10.1083/jcb.119.3.679" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1383240">Kallunki et al. (1992)</a> isolated 2 novel cDNAs from a human fibrosarcoma cell library, one encoding a deduced 1,193-amino acid protein and the other encoding a deduced 1,111-amino acid protein. One of these proteins, which <a href="#7" class="mim-tip-reference" title="Kallunki, P., Sainio, K., Eddy, R., Byers, M., Kallunki, T., Sariola, H., Beck, K., Hirvonen, H., Shows, T. B., Tryggvason, K. <strong>A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment.</strong> J. Cell Biol. 119: 679-693, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1383240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1383240</a>] [<a href="https://doi.org/10.1083/jcb.119.3.679" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1383240">Kallunki et al. (1992)</a> designated LAMB2T (LAMC2), was homologous to what was then termed laminin B2 (now termed LAMC1, <a href="/entry/150290">150290</a>) but was significantly shorter. Northern blot analysis of human fetal tissues showed highest expression of LAMC2 in skin and lung, and lower expression in kidney, thymus, choroid plexus, cerebellum, and the brain intermediate zone. In situ hybridization localized LAMC2 to specific epithelial cells in skin, lung, and kidney as opposed to a general epithelial and endothelial cell expression of LAMC1 in the same tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1383240" 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 in situ hybridization, <a href="#7" class="mim-tip-reference" title="Kallunki, P., Sainio, K., Eddy, R., Byers, M., Kallunki, T., Sariola, H., Beck, K., Hirvonen, H., Shows, T. B., Tryggvason, K. <strong>A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment.</strong> J. Cell Biol. 119: 679-693, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1383240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1383240</a>] [<a href="https://doi.org/10.1083/jcb.119.3.679" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1383240">Kallunki et al. (1992)</a> demonstrated that the LAMC2 gene maps to chromosome 1q25-q31 in close proximity to the LAMC1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1383240" 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="#1" class="mim-tip-reference" title="Aberdam, D., Galliano, M. F., Mattei, M.-G., Pisani-Spadafora, A., Ortonne, J. P., Meneguzzi, G. <strong>Assignment of mouse nicein genes to chromosomes 1 and 18.</strong> Mammalian Genome 5: 229-233, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012114</a>] [<a href="https://doi.org/10.1007/BF00360551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012114">Aberdam et al. (1994)</a> mapped the homologous gene in the mouse to chromosome 1 by isotopic in situ hybridization. They concluded that the mouse genes encoding the 100-kD and the 125-kD subunits of nicein are both on mouse chromosome 1 in band H1 and in the region of bands H2-6, respectively, whereas the gene encoding the 150-kD subunit of mouse nicein is located in the A band of chromosome 18. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012114" 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="#11" class="mim-tip-reference" title="Stumpf, A. M. <strong>Personal Communication.</strong> Baltimore, Md. 03/29/2022."None>Stumpf (2022)</a> mapped the LAMC2 gene to chromosome 1q25.3 based on an alignment of the LAMC2 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC113378" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC113378</a>) with the genomic sequence (GRCh38).</p>
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<p><a href="#3" class="mim-tip-reference" title="Airenne, T., Haakana, H., Sainio, K., Kallunki, T., Kallunki, P., Sariola, H., Tryggvason, K. <strong>Structure of the human laminin gamma-2 chain gene (LAMC2): alternative splicing with different tissue distribution of two transcripts.</strong> Genomics 32: 54-64, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8786121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8786121</a>] [<a href="https://doi.org/10.1006/geno.1996.0076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8786121">Airenne et al. (1996)</a> determined the structure of the LAMC2 gene, which contains 23 exons and spans approximately 55 kb. The 2 cDNAs described by <a href="#7" class="mim-tip-reference" title="Kallunki, P., Sainio, K., Eddy, R., Byers, M., Kallunki, T., Sariola, H., Beck, K., Hirvonen, H., Shows, T. B., Tryggvason, K. <strong>A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment.</strong> J. Cell Biol. 119: 679-693, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1383240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1383240</a>] [<a href="https://doi.org/10.1083/jcb.119.3.679" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1383240">Kallunki et al. (1992)</a> were shown to result from alternative splicing. The long form includes exon 23, whereas the short form encodes a protein that truncates 2 codons beyond exon 22. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8786121+1383240" 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="#3" class="mim-tip-reference" title="Airenne, T., Haakana, H., Sainio, K., Kallunki, T., Kallunki, P., Sariola, H., Tryggvason, K. <strong>Structure of the human laminin gamma-2 chain gene (LAMC2): alternative splicing with different tissue distribution of two transcripts.</strong> Genomics 32: 54-64, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8786121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8786121</a>] [<a href="https://doi.org/10.1006/geno.1996.0076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8786121">Airenne et al. (1996)</a> found that in 17-week old human embryonic tissues the long form of LAMC2 was strongly expressed in the epithelia of all tissues, whereas mRNA for the short form was observed in the cerebral cortex, lung, and distal tubules of the kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8786121" 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 3A</em></strong></p><p>
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<a href="#8" 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 a mutation in the LAMC2 gene (R245X; <a href="#0006">150292.0006</a>) in a patient with non-Herlitz JEB (JEB3A; <a href="/entry/619785">619785</a>). <a href="#8" 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> examined the molecular basis of the specification of Herlitz versus non-Herlitz forms of JEB. They examined a cohort of 27 families, 15 with Herlitz and 12 with non-Herlitz JEB, for mutations in the candidate genes LAMA3, LAMB3, and LAMC2. The mutation detection strategy consisted of PCR amplification of all exons in these genes, followed by heteroduplex scanning and sequencing. They were able to identify pathogenic mutations in both alleles of each proband, the largest number of mutations being in the LAMB3 gene. Examination of the mutation database, which provided clinical information, revealed that most cases with Herlitz JEB harbored premature termination codon (PTC) mutations in both alleles. In non-Herlitz cases, the PTC mutation was frequently associated with a missense mutation or a putative splicing mutation in trans. In 3 cases with putative splicing mutations, RT-PCR analysis revealed a repertoire of splice variants in-frame, predicting the synthesis of either shortened or lengthened, yet partly functional, polypeptides. These observations would explain the relatively mild phenotype in cases with splicing mutations. <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 3B</em></strong></p><p>
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In a patient with the Herlitz form of junctional epidermolysis bullosa (JEB3B; <a href="/entry/619786">619786</a>), <a href="#9" class="mim-tip-reference" title="Pulkkinen, L., Christiano, A. M., Airenne, T., Haakana, H., Tryggvason, K., Uitto, J. <strong>Mutations in the gamma-2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.</strong> Nature Genet. 6: 293-298, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012393</a>] [<a href="https://doi.org/10.1038/ng0394-293" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012393">Pulkkinen et al. (1994)</a> identified a homozygous mutation in the LAMC2 gene (<a href="#0001">150292.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012393" 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="#2" class="mim-tip-reference" title="Aberdam, D., Galliano, M.-F., Vailly, J., Pulkkinen, L., Bonifas, J., Christiano, A. M., Tryggvason, K., Uitto, J., Epstein, E. H., Jr., Ortonne, J.-P., Meneguzzi, G. <strong>Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma-2 subunit of nicein/kalinin (laminin-5).</strong> Nature Genet. 6: 299-304, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012394</a>] [<a href="https://doi.org/10.1038/ng0394-299" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012394">Aberdam et al. (1994)</a> found mutations in the LAMC2 gene in patients with Herlitz JEB. Linkage studies indicated close linkage to microsatellite markers in the region of chromosome 1 where the LAMC2 gene had previously been mapped. The approach of homozygosity mapping was used in part. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012394" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>8 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=150292[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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<strong>.0001 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE</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">rs1558092501 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1558092501;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=rs1558092501" 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=rs1558092501" 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=RCV000015655 OR RCV002051621" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015655, RCV002051621" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015655...</a>
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<p>In a girl with the Herlitz-Pearson type of junctional epidermolysis bullosa (JEB3B; <a href="/entry/619786">619786</a>), <a href="#9" class="mim-tip-reference" title="Pulkkinen, L., Christiano, A. M., Airenne, T., Haakana, H., Tryggvason, K., Uitto, J. <strong>Mutations in the gamma-2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.</strong> Nature Genet. 6: 293-298, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012393</a>] [<a href="https://doi.org/10.1038/ng0394-293" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012393">Pulkkinen et al. (1994)</a> identified a homozygous G-to-A transition in intron 8 of the LAMC2 gene, resulting in the skipping of exon 9. The deletion was predicted to result in shortening of the kalinin gamma-2 chain by 73 amino acids within subdomains III and IV. The patient had multiple erosions and hemorrhagic blisters. She had lost nails from the fingers and toes, but there was no fusion of digits. She died at age 23. A similarly affected older sister had died at age 21. The parents were reportedly unaffected. Since the first nucleotide of exon 9 is 1184, <a href="#9" class="mim-tip-reference" title="Pulkkinen, L., Christiano, A. M., Airenne, T., Haakana, H., Tryggvason, K., Uitto, J. <strong>Mutations in the gamma-2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.</strong> Nature Genet. 6: 293-298, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012393</a>] [<a href="https://doi.org/10.1038/ng0394-293" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012393">Pulkkinen et al. (1994)</a> referred to this mutation as 1184,-1,G-to-A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012393" 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>.0002 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE</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"><span class="text-primary">●</span> rs80356683 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356683;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/rs80356683?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=rs80356683" 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=rs80356683" 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=RCV000015656 OR RCV001243997 OR RCV002051622" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015656, RCV001243997, RCV002051622" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015656...</a>
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<p>In affected members of a family with Herlitz junctional epidermolysis bullosa (JEB3B; <a href="/entry/619786">619786</a>), <a href="#2" class="mim-tip-reference" title="Aberdam, D., Galliano, M.-F., Vailly, J., Pulkkinen, L., Bonifas, J., Christiano, A. M., Tryggvason, K., Uitto, J., Epstein, E. H., Jr., Ortonne, J.-P., Meneguzzi, G. <strong>Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma-2 subunit of nicein/kalinin (laminin-5).</strong> Nature Genet. 6: 299-304, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012394</a>] [<a href="https://doi.org/10.1038/ng0394-299" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012394">Aberdam et al. (1994)</a> identified a homozygous C-to-T transition in exon 3 of the LAMC2 gene, resulting in an arg95-to-ter (R95X) substitution. Clinical features included extensive blistering and erosion of the skin shortly after birth. Blisters were located within the lamina lucida of the dermoepidermal basement membrane, with an intact epidermis at the roof and an intact lamina densa at the base. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012394" 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>.0003 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE</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">rs118203899 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118203899;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=rs118203899" 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=rs118203899" 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=RCV000015657 OR RCV002051623 OR RCV005007854" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015657, RCV002051623, RCV005007854" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015657...</a>
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<p>In affected members of a family with the Herlitz type of junctional epidermolysis bullosa (JEB3B; <a href="/entry/619786">619786</a>), <a href="#4" class="mim-tip-reference" title="Baudoin, C., Miquel, C., Gagnoux-Palacios, L., Pulkkinen, L., Christiano, A. M., Uitto, J., Tadini, G., Ortonne, J.-P., Meneguzzi, G. <strong>A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa.</strong> Hum. Molec. Genet. 3: 1909-1910, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849725</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1909" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849725">Baudoin et al. (1994)</a> observed a homozygous 1182C-G transversion in the LAMC2 gene, resulting in a tyr355-to-ter (Y355X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849725" 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 3B, SEVERE</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">rs118203900 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118203900;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=rs118203900" 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=rs118203900" 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=RCV000794274 OR RCV002051624" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000794274, RCV002051624" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000794274...</a>
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<p>In a patient of Japanese origin with Herlitz junctional epidermolysis bullosa (JEB3B; <a href="/entry/619786">619786</a>), <a href="#12" class="mim-tip-reference" title="Takizawa, Y., Pulkkinen, L., Chao, S.-C., Nakajima, H., Nakano, Y., Shimizu, H., Uitto, J. <strong>Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa.</strong> J. Invest. Derm. 115: 307-311, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10951251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10951251</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2000.00052.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10951251">Takizawa et al. (2000)</a> identified a homozygous C-to-A substitution at position 1776 of exon 11 of the LAMC2 gene. This resulted in a cys553-to-ter (C553X) nonsense mutation. The patient died at 8 months of age. The father was a heterozygous carrier of this mutation, whereas the mother had 2 normal LAMC2 alleles. The patient showed homozygosity for 15 known intragenic polymorphisms in the LAMC2 gene and 16 microsatellite markers spanning the entire chromosome 1 which, when informative, were paternal in origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10951251" 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>.0005 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE</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">rs1558095794 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1558095794;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=rs1558095794" 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=rs1558095794" 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=RCV002051625" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002051625" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002051625</a>
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<p>In a Caucasian male with Herlitz junctional epidermolysis bullosa (JEB3B; <a href="/entry/619786">619786</a>) who died at the age of 4 months with generalized blistering and abnormal nails, <a href="#8" 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 7-bp deletion (2137del7) in the LAMC2 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>.0006 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE</strong>
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LAMC2, ARG245TER
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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> rs118203901 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118203901;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/rs118203901?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=rs118203901" 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=rs118203901" 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=RCV000778201 OR RCV001055824 OR RCV002051626" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000778201, RCV001055824, RCV002051626" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000778201...</a>
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<p>In a 7-year-old Turkish girl with junctional epidermolysis bullosa of the non-Herlitz type (JEB3A; <a href="/entry/619785">619785</a>) manifested as generalized moderate blisters with nail and dental abnormalities, <a href="#8" 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 an arg245-to-ter (R245X) nonsense mutation in exon 6 of the LAMC2 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>.0007 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE</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">rs1558088792 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1558088792;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=rs1558088792" 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=rs1558088792" 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=RCV001234063 OR RCV002051627" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001234063, RCV002051627" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001234063...</a>
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<p>In a compound heterozygous non-Herlitz junctional epidermolysis bullosa (JEB3A; <a href="/entry/619785">619785</a>) patient, <a href="#6" class="mim-tip-reference" title="Castiglia, D., Posteraro, P., Spirito, F., Pinola, M., Angelo, C., Puddu, P., Meneguzzi, G., Zambruno, G. <strong>Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition.</strong> J. Invest. Derm. 117: 731-739, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11564184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11564184</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01453.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11564184">Castiglia et al. (2001)</a> described a de novo LAMC2 splice site mutation, 522-1G-A. This mutation resulted in in-frame skipping of exon 4 and synthesis of a mutated gamma-2 polypeptide (gamma-2-delta-4) carrying a 33-amino acid deletion within the N-terminal domain V. Transfection of this mutant cDNA into LAMC2-null keratinocytes resulted in restoration of laminin-5 deposition onto the culture substrate, which demonstrated that the gamma-2 polypeptides carrying a deletion in domain V, upstream of the gamma-2 proteolytic cleavage site, are assembled into native laminin-5 that is secreted and extracellularly processed. The mutation carried on the other allele of the patient (<a href="#0008">150292.0008</a>) did not result in laminin-5 secretion and extracellular processing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11564184" 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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<span class="mim-font">
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<strong>.0008 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE</strong>
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LAMC2, 1-BP INS, 3511A
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002051628" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002051628" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002051628</a>
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<p>In a compound heterozygous non-Herlitz junctional epidermolysis bullosa (JEB3A; <a href="/entry/619785">619785</a>) patient, <a href="#6" class="mim-tip-reference" title="Castiglia, D., Posteraro, P., Spirito, F., Pinola, M., Angelo, C., Puddu, P., Meneguzzi, G., Zambruno, G. <strong>Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition.</strong> J. Invest. Derm. 117: 731-739, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11564184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11564184</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01453.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11564184">Castiglia et al. (2001)</a> described a 1-basepair insertion (3511insA) in the 3-prime terminal exon of LAMC2, resulting in a frameshift and a premature termination codon. This mutation was predicted to lead to the synthesis of a gamma-2 polypeptide (gamma-2t) disrupted in its alpha-helical C-terminal structure and truncated of the last 25 amino acids. Transfection of this mutant cDNA into LAMC2-null keratinocytes failed to restore laminin-5 immunoreactivity, which indicated that integrity of the gamma-2 C-terminal amino acid sequences is required for laminin-5 assembly. The other allele of the patient carried a splice site mutation (<a href="#0007">150292.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11564184" 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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<a id="1" class="mim-anchor"></a>
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<a id="Aberdam1994" class="mim-anchor"></a>
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Aberdam, D., Galliano, M. F., Mattei, M.-G., Pisani-Spadafora, A., Ortonne, J. P., Meneguzzi, G.
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<strong>Assignment of mouse nicein genes to chromosomes 1 and 18.</strong>
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Mammalian Genome 5: 229-233, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012114</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012114" 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/BF00360551" target="_blank">Full Text</a>]
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<a id="Aberdam1994" class="mim-anchor"></a>
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Aberdam, D., Galliano, M.-F., Vailly, J., Pulkkinen, L., Bonifas, J., Christiano, A. M., Tryggvason, K., Uitto, J., Epstein, E. H., Jr., Ortonne, J.-P., Meneguzzi, G.
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<strong>Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma-2 subunit of nicein/kalinin (laminin-5).</strong>
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Nature Genet. 6: 299-304, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012394</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012394" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0394-299" target="_blank">Full Text</a>]
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<a id="Airenne1996" class="mim-anchor"></a>
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Airenne, T., Haakana, H., Sainio, K., Kallunki, T., Kallunki, P., Sariola, H., Tryggvason, K.
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<strong>Structure of the human laminin gamma-2 chain gene (LAMC2): alternative splicing with different tissue distribution of two transcripts.</strong>
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Genomics 32: 54-64, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8786121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8786121</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8786121" 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.1996.0076" target="_blank">Full Text</a>]
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<a id="Baudoin1994" class="mim-anchor"></a>
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Baudoin, C., Miquel, C., Gagnoux-Palacios, L., Pulkkinen, L., Christiano, A. M., Uitto, J., Tadini, G., Ortonne, J.-P., Meneguzzi, G.
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<strong>A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa.</strong>
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Hum. Molec. Genet. 3: 1909-1910, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849725</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/3.10.1909" 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>
|
|
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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[<a href="https://doi.org/10.1016/0945-053x(94)90184-8" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Castiglia2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Castiglia, D., Posteraro, P., Spirito, F., Pinola, M., Angelo, C., Puddu, P., Meneguzzi, G., Zambruno, G.
|
|
<strong>Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition.</strong>
|
|
J. Invest. Derm. 117: 731-739, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11564184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11564184</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11564184" 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/10.1046/j.0022-202x.2001.01453.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Kallunki1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kallunki, P., Sainio, K., Eddy, R., Byers, M., Kallunki, T., Sariola, H., Beck, K., Hirvonen, H., Shows, T. B., Tryggvason, K.
|
|
<strong>A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment.</strong>
|
|
J. Cell Biol. 119: 679-693, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1383240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1383240</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1383240" 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.119.3.679" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Nakano2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nakano, A., Chao, S.-C., Pulkkinen, L., Murrell, D., Bruckner-Tuderman, L., Pfendner, E., Uitto, J.
|
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<strong>Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes.</strong>
|
|
Hum. Genet. 110: 41-51, 2002.
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[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://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'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-001-0630-1" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Pulkkinen1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pulkkinen, L., Christiano, A. M., Airenne, T., Haakana, H., Tryggvason, K., Uitto, J.
|
|
<strong>Mutations in the gamma-2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.</strong>
|
|
Nature Genet. 6: 293-298, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012393</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0394-293" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Ryan1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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>
|
|
J. Biol. Chem. 269: 22779-22787, 1994.
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[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>, <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'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Stumpf2022" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stumpf, A. M.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 03/29/2022.
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Takizawa2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Takizawa, Y., Pulkkinen, L., Chao, S.-C., Nakajima, H., Nakano, Y., Shimizu, H., Uitto, J.
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<strong>Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa.</strong>
|
|
J. Invest. Derm. 115: 307-311, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10951251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10951251</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10951251" 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/10.1046/j.1523-1747.2000.00052.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 03/29/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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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Gary A. Bellus - updated : 5/13/2003<br>Victor A. McKusick - updated : 1/25/2002<br>Gary A. Bellus - updated : 3/28/2001<br>Alan F. Scott - updated : 4/11/1996
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 9/8/1993
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 03/29/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 03/29/2022<br>carol : 07/08/2008<br>carol : 7/8/2008<br>ckniffin : 7/2/2008<br>carol : 1/22/2007<br>alopez : 5/13/2003<br>carol : 7/8/2002<br>carol : 2/7/2002<br>mcapotos : 2/6/2002<br>mcapotos : 2/6/2002<br>terry : 1/25/2002<br>cwells : 4/4/2001<br>cwells : 3/28/2001<br>carol : 7/14/2000<br>terry : 5/29/1998<br>mark : 3/7/1997<br>mark : 4/11/1996<br>terry : 4/11/1996<br>mark : 4/10/1996<br>mark : 10/3/1995<br>carol : 12/13/1994<br>davew : 7/1/1994<br>jason : 6/13/1994<br>carol : 9/8/1993
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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>
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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> 150292
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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, GAMMA-2; LAMC2
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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">
|
|
LAMININ B2 POLYPEPTIDE, TRUNCATED<br />
|
|
LAMB2, TRUNCATED; LAMB2T<br />
|
|
KALININ<br />
|
|
LAMININ, NICEIN, BETA-2; LAMNB2<br />
|
|
LAMININ 5, GAMMA-2 SUBUNIT<br />
|
|
LAM5, GAMMA-2 SUBUNIT
|
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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">
|
|
<strong><em>HGNC Approved Gene Symbol: LAMC2</em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
|
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<em>
|
|
Cytogenetic location: 1q25.3
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 1:183,186,264-183,258,968 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
1q25.3
|
|
</span>
|
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</td>
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Epidermolysis bullosa, junctional 3A, intermediate
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
619785
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Epidermolysis bullosa, junctional 3B, severe
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
619786
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
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</tbody>
|
|
</table>
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</div>
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</div>
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<div>
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<br />
|
|
</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
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|
<span class="mim-text-font">
|
|
<p>Laminin-5 (LAM5) is an isoform within the laminin family of proteins that is composed of 3 distinct polypeptides, the alpha-3 (LAMA3; 600805), beta-3 (LAMB3; 150310), and gamma-2 (LAMC2) 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>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<span class="mim-text-font">
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<p>Kallunki et al. (1992) isolated 2 novel cDNAs from a human fibrosarcoma cell library, one encoding a deduced 1,193-amino acid protein and the other encoding a deduced 1,111-amino acid protein. One of these proteins, which Kallunki et al. (1992) designated LAMB2T (LAMC2), was homologous to what was then termed laminin B2 (now termed LAMC1, 150290) but was significantly shorter. Northern blot analysis of human fetal tissues showed highest expression of LAMC2 in skin and lung, and lower expression in kidney, thymus, choroid plexus, cerebellum, and the brain intermediate zone. In situ hybridization localized LAMC2 to specific epithelial cells in skin, lung, and kidney as opposed to a general epithelial and endothelial cell expression of LAMC1 in the same tissues. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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 in situ hybridization, Kallunki et al. (1992) demonstrated that the LAMC2 gene maps to chromosome 1q25-q31 in close proximity to the LAMC1 gene. </p><p>Aberdam et al. (1994) mapped the homologous gene in the mouse to chromosome 1 by isotopic in situ hybridization. They concluded that the mouse genes encoding the 100-kD and the 125-kD subunits of nicein are both on mouse chromosome 1 in band H1 and in the region of bands H2-6, respectively, whereas the gene encoding the 150-kD subunit of mouse nicein is located in the A band of chromosome 18. </p><p>Stumpf (2022) mapped the LAMC2 gene to chromosome 1q25.3 based on an alignment of the LAMC2 sequence (GenBank BC113378) with the genomic sequence (GRCh38).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Airenne et al. (1996) determined the structure of the LAMC2 gene, which contains 23 exons and spans approximately 55 kb. The 2 cDNAs described by Kallunki et al. (1992) were shown to result from alternative splicing. The long form includes exon 23, whereas the short form encodes a protein that truncates 2 codons beyond exon 22. </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>Airenne et al. (1996) found that in 17-week old human embryonic tissues the long form of LAMC2 was strongly expressed in the epithelia of all tissues, whereas mRNA for the short form was observed in the cerebral cortex, lung, and distal tubules of the kidney. </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 3A</em></strong></p><p>
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Nakano et al. (2002) identified a mutation in the LAMC2 gene (R245X; 150292.0006) in a patient with non-Herlitz JEB (JEB3A; 619785). Nakano et al. (2002) examined the molecular basis of the specification of Herlitz versus non-Herlitz forms of JEB. They examined a cohort of 27 families, 15 with Herlitz and 12 with non-Herlitz JEB, for mutations in the candidate genes LAMA3, LAMB3, and LAMC2. The mutation detection strategy consisted of PCR amplification of all exons in these genes, followed by heteroduplex scanning and sequencing. They were able to identify pathogenic mutations in both alleles of each proband, the largest number of mutations being in the LAMB3 gene. Examination of the mutation database, which provided clinical information, revealed that most cases with Herlitz JEB harbored premature termination codon (PTC) mutations in both alleles. In non-Herlitz cases, the PTC mutation was frequently associated with a missense mutation or a putative splicing mutation in trans. In 3 cases with putative splicing mutations, RT-PCR analysis revealed a repertoire of splice variants in-frame, predicting the synthesis of either shortened or lengthened, yet partly functional, polypeptides. These observations would explain the relatively mild phenotype in cases with splicing mutations. </p><p><strong><em>Severe Junctional Epidermolysis Bullosa 3B</em></strong></p><p>
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|
In a patient with the Herlitz form of junctional epidermolysis bullosa (JEB3B; 619786), Pulkkinen et al. (1994) identified a homozygous mutation in the LAMC2 gene (150292.0001). </p><p>Aberdam et al. (1994) found mutations in the LAMC2 gene in patients with Herlitz JEB. Linkage studies indicated close linkage to microsatellite markers in the region of chromosome 1 where the LAMC2 gene had previously been mapped. The approach of homozygosity mapping was used in part. </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>8 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 3B, 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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LAMC2, IVS8AS, G-A, -1
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<br />
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SNP: rs1558092501,
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ClinVar: RCV000015655, RCV002051621
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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 girl with the Herlitz-Pearson type of junctional epidermolysis bullosa (JEB3B; 619786), Pulkkinen et al. (1994) identified a homozygous G-to-A transition in intron 8 of the LAMC2 gene, resulting in the skipping of exon 9. The deletion was predicted to result in shortening of the kalinin gamma-2 chain by 73 amino acids within subdomains III and IV. The patient had multiple erosions and hemorrhagic blisters. She had lost nails from the fingers and toes, but there was no fusion of digits. She died at age 23. A similarly affected older sister had died at age 21. The parents were reportedly unaffected. Since the first nucleotide of exon 9 is 1184, Pulkkinen et al. (1994) referred to this mutation as 1184,-1,G-to-A. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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|
<span class="mim-font">
|
|
<strong>.0002 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, 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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LAMC2, ARG95TER
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<br />
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SNP: rs80356683,
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gnomAD: rs80356683,
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ClinVar: RCV000015656, RCV001243997, RCV002051622
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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 affected members of a family with Herlitz junctional epidermolysis bullosa (JEB3B; 619786), Aberdam et al. (1994) identified a homozygous C-to-T transition in exon 3 of the LAMC2 gene, resulting in an arg95-to-ter (R95X) substitution. Clinical features included extensive blistering and erosion of the skin shortly after birth. Blisters were located within the lamina lucida of the dermoepidermal basement membrane, with an intact epidermis at the roof and an intact lamina densa at the base. </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>.0003 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
LAMC2, TYR355TER
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|
<br />
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|
|
SNP: rs118203899,
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|
|
ClinVar: RCV000015657, RCV002051623, RCV005007854
|
|
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|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with the Herlitz type of junctional epidermolysis bullosa (JEB3B; 619786), Baudoin et al. (1994) observed a homozygous 1182C-G transversion in the LAMC2 gene, resulting in a tyr355-to-ter (Y355X) substitution. </p>
|
|
</span>
|
|
</div>
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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>.0004 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LAMC2, CYS553TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118203900,
|
|
|
|
|
|
|
|
ClinVar: RCV000794274, RCV002051624
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient of Japanese origin with Herlitz junctional epidermolysis bullosa (JEB3B; 619786), Takizawa et al. (2000) identified a homozygous C-to-A substitution at position 1776 of exon 11 of the LAMC2 gene. This resulted in a cys553-to-ter (C553X) nonsense mutation. The patient died at 8 months of age. The father was a heterozygous carrier of this mutation, whereas the mother had 2 normal LAMC2 alleles. The patient showed homozygosity for 15 known intragenic polymorphisms in the LAMC2 gene and 16 microsatellite markers spanning the entire chromosome 1 which, when informative, were paternal in origin. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LAMC2, 7-BP DEL, NT2137
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1558095794,
|
|
|
|
|
|
|
|
ClinVar: RCV002051625
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Caucasian male with Herlitz junctional epidermolysis bullosa (JEB3B; 619786) who died at the age of 4 months with generalized blistering and abnormal nails, Nakano et al. (2002) found homozygosity for a 7-bp deletion (2137del7) in the LAMC2 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LAMC2, ARG245TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118203901,
|
|
|
|
|
|
gnomAD: rs118203901,
|
|
|
|
|
|
ClinVar: RCV000778201, RCV001055824, RCV002051626
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 7-year-old Turkish girl with junctional epidermolysis bullosa of the non-Herlitz type (JEB3A; 619785) manifested as generalized moderate blisters with nail and dental abnormalities, Nakano et al. (2002) found homozygosity for an arg245-to-ter (R245X) nonsense mutation in exon 6 of the LAMC2 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LAMC2, IVS3, G-A, -1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1558088792,
|
|
|
|
|
|
|
|
ClinVar: RCV001234063, RCV002051627
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a compound heterozygous non-Herlitz junctional epidermolysis bullosa (JEB3A; 619785) patient, Castiglia et al. (2001) described a de novo LAMC2 splice site mutation, 522-1G-A. This mutation resulted in in-frame skipping of exon 4 and synthesis of a mutated gamma-2 polypeptide (gamma-2-delta-4) carrying a 33-amino acid deletion within the N-terminal domain V. Transfection of this mutant cDNA into LAMC2-null keratinocytes resulted in restoration of laminin-5 deposition onto the culture substrate, which demonstrated that the gamma-2 polypeptides carrying a deletion in domain V, upstream of the gamma-2 proteolytic cleavage site, are assembled into native laminin-5 that is secreted and extracellularly processed. The mutation carried on the other allele of the patient (150292.0008) did not result in laminin-5 secretion and extracellular processing. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LAMC2, 1-BP INS, 3511A
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV002051628
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a compound heterozygous non-Herlitz junctional epidermolysis bullosa (JEB3A; 619785) patient, Castiglia et al. (2001) described a 1-basepair insertion (3511insA) in the 3-prime terminal exon of LAMC2, resulting in a frameshift and a premature termination codon. This mutation was predicted to lead to the synthesis of a gamma-2 polypeptide (gamma-2t) disrupted in its alpha-helical C-terminal structure and truncated of the last 25 amino acids. Transfection of this mutant cDNA into LAMC2-null keratinocytes failed to restore laminin-5 immunoreactivity, which indicated that integrity of the gamma-2 C-terminal amino acid sequences is required for laminin-5 assembly. The other allele of the patient carried a splice site mutation (150292.0007). </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>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Aberdam, D., Galliano, M. F., Mattei, M.-G., Pisani-Spadafora, A., Ortonne, J. P., Meneguzzi, G.
|
|
<strong>Assignment of mouse nicein genes to chromosomes 1 and 18.</strong>
|
|
Mammalian Genome 5: 229-233, 1994.
|
|
|
|
|
|
[PubMed: 8012114]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00360551]
|
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Aberdam, D., Galliano, M.-F., Vailly, J., Pulkkinen, L., Bonifas, J., Christiano, A. M., Tryggvason, K., Uitto, J., Epstein, E. H., Jr., Ortonne, J.-P., Meneguzzi, G.
|
|
<strong>Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma-2 subunit of nicein/kalinin (laminin-5).</strong>
|
|
Nature Genet. 6: 299-304, 1994.
|
|
|
|
|
|
[PubMed: 8012394]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0394-299]
|
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|
|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Airenne, T., Haakana, H., Sainio, K., Kallunki, T., Kallunki, P., Sariola, H., Tryggvason, K.
|
|
<strong>Structure of the human laminin gamma-2 chain gene (LAMC2): alternative splicing with different tissue distribution of two transcripts.</strong>
|
|
Genomics 32: 54-64, 1996.
|
|
|
|
|
|
[PubMed: 8786121]
|
|
|
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|
|
[Full Text: https://doi.org/10.1006/geno.1996.0076]
|
|
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|
|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
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Kallunki, P., Sainio, K., Eddy, R., Byers, M., Kallunki, T., Sariola, H., Beck, K., Hirvonen, H., Shows, T. B., Tryggvason, K.
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Stumpf, A. M.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 03/29/2022.
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Anne M. Stumpf - updated : 03/29/2022<br>Gary A. Bellus - updated : 5/13/2003<br>Victor A. McKusick - updated : 1/25/2002<br>Gary A. Bellus - updated : 3/28/2001<br>Alan F. Scott - updated : 4/11/1996
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Victor A. McKusick : 9/8/1993
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