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Entry
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- *147556 - INTEGRIN, ALPHA-6; ITGA6
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*147556</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</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="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</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/147556">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 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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</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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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000091409;t=ENST00000684293" 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=3655" 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=147556" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000091409;t=ENST00000684293" 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_000210,NM_001079818,NM_001316306,NM_001365529,NM_001365530,NM_001394928,XM_017004005,XM_017004006,XM_047444221,XM_047444222" 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_000210" 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=147556" 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=00945&isoform_id=00945_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/ITGA6" 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/33942,33944,239158,239160,263064,5726563,30046796,62087264,62702207,111610293,119395740,119395742,119631580,119631581,119631582,187950353,187953255,194377464,194383148,374254538,374254540,519668687,937834186,1034613710,1034613712,1465395711,1465395713,2035253171,2217327715,2217327717,2462572893" 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/P23229" 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=3655" 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=ENSG00000091409;t=ENST00000684293" 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=ITGA6" 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=ITGA6" 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+3655" 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/ITGA6" 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:3655" 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/3655" 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=chr2&hgg_gene=ENST00000684293.1&hgg_start=172427336&hgg_end=172506459&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://medlineplus.gov/genetics/gene/itga6" 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=147556[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 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=147556[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/ENSG00000091409" 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=ITGA6" 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=ITGA6" 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=ITGA6" 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=ITGA6&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/PA29942" 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:6142" 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/FBgn0004456.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:96605" 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/ITGA6#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:96605" 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/3655/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/OMIA002718/" 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=3655" 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=WBGene00002081;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-050309-23" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3655" 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=ITGA6&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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147556
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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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INTEGRIN, ALPHA-6; ITGA6
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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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CD49F
|
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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=ITGA6" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ITGA6</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/2/779?start=-3&limit=10&highlight=779">2q31.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:172427336-172506459&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'})">2:172,427,336-172,506,459</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/2/779?start=-3&limit=10&highlight=779">
|
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2q31.1
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Epidermolysis bullosa, junctional 6, with pyloric atresia
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
|
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<a href="/entry/619817"> 619817 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/147556" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/147556" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<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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</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="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<p><a href="#10" class="mim-tip-reference" title="Tamura, R. N., Rozzo, C., Starr, L., Chambers, J., Reichardt, L. F., Cooper, H. M., Quaranta, V. <strong>Epithelial integrin alpha-6/beta-4: complete primary structure of alpha-6 and variant forms of beta-4.</strong> J. Cell Biol. 111: 1593-1604, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1976638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1976638</a>] [<a href="https://doi.org/10.1083/jcb.111.4.1593" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1976638">Tamura et al. (1990)</a> determined the complete primary structure of alpha-6, which is part of the integrin alpha-6/beta-4 (ITGB4; <a href="/entry/147557">147557</a>) heterodimer expressed predominantly by epithelial cells. <a href="#3" class="mim-tip-reference" title="Hogervorst, F., Kuikman, I., Geurts van Kessel, A., Sonnenberg, A. <strong>Molecular cloning of the human alpha-6 integrin subunit: alternative splicing of alpha-6 mRNA and chromosomal localization of the alpha-6 and beta-4 genes.</strong> Europ. J. Biochem. 199: 425-433, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2070796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2070796</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1991.tb16140.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2070796">Hogervorst et al. (1991)</a> isolated cDNAs encoding the alpha-6 subunit from a gamma-gt11 expression library from human keratinocytes. The alpha-6 subunit encoded by this cDNA consists of 1,050 amino acids with a 991-amino acid extracellular domain, a 23-amino acid transmembrane domain, and a 36-amino acid cytoplasmic domain. The alpha-6 subunit most closely resembles the alpha-3 subunit (ITGA3; <a href="/entry/605025">605025</a>), which shows 40% identity. <a href="#3" class="mim-tip-reference" title="Hogervorst, F., Kuikman, I., Geurts van Kessel, A., Sonnenberg, A. <strong>Molecular cloning of the human alpha-6 integrin subunit: alternative splicing of alpha-6 mRNA and chromosomal localization of the alpha-6 and beta-4 genes.</strong> Europ. J. Biochem. 199: 425-433, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2070796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2070796</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1991.tb16140.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2070796">Hogervorst et al. (1991)</a> stated that this high degree of similarity may be the basis for their functional resemblance, since both the alpha-3 and alpha-6 subunits, when associated with beta-1 (ITGB1; <a href="/entry/135630">135630</a>), haven been shown to function as laminin receptors (<a href="/entry/150370">150370</a>) and to bind to the long arm of laminin (see <a href="/entry/150320">150320</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2070796+1976638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In mice, <a href="#11" class="mim-tip-reference" title="Yao, H., Price, T. T., Cantelli, G., Ngo, B., Warner, M. J., Olivere, L., Ridge, S. M., Jablonski, E. M., Therrien, J., Tannheimer, S., McCall, C. M., Chenn, A., Sipkins, D. A. <strong>Leukemia hijacks a neural mechanism to invade the central nervous system.</strong> Nature 560: 55-60, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30022166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30022166</a>] [<a href="https://doi.org/10.1038/s41586-018-0342-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30022166">Yao et al. (2018)</a> showed that acute lymphoblastic leukemia (ALL; <a href="/entry/613065">613065</a>) cells in the circulation are unable to breach the blood-brain barrier; instead, they migrate into the central nervous system (CNS) along vessels that pass directly between vertebral or calvarial bone marrow and the subarachnoid space. The basement membrane of these bridging vessels is enriched in laminin (see <a href="/entry/150320">150320</a>), which is known to coordinate pathfinding of neuronal progenitor cells in the CNS. The laminin receptor alpha-6 integrin is expressed in most cases of ALL. <a href="#11" class="mim-tip-reference" title="Yao, H., Price, T. T., Cantelli, G., Ngo, B., Warner, M. J., Olivere, L., Ridge, S. M., Jablonski, E. M., Therrien, J., Tannheimer, S., McCall, C. M., Chenn, A., Sipkins, D. A. <strong>Leukemia hijacks a neural mechanism to invade the central nervous system.</strong> Nature 560: 55-60, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30022166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30022166</a>] [<a href="https://doi.org/10.1038/s41586-018-0342-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30022166">Yao et al. (2018)</a> found that alpha-6 integrin-laminin interactions mediated the migration of ALL cells towards the cerebrospinal fluid in vitro. Mice with ALL xenografts were treated with either a PI3K-delta (PIK3CD; <a href="/entry/602839">602839</a>) inhibitor, which decreased alpha-6 integrin expression on ALL cells, or specific alpha-6 integrin-neutralizing antibodies and showed significant reductions in ALL transit along bridging vessels, blast counts in the cerebrospinal fluid, and CNS disease symptoms despite minimally decreased bone marrow disease burden. <a href="#11" class="mim-tip-reference" title="Yao, H., Price, T. T., Cantelli, G., Ngo, B., Warner, M. J., Olivere, L., Ridge, S. M., Jablonski, E. M., Therrien, J., Tannheimer, S., McCall, C. M., Chenn, A., Sipkins, D. A. <strong>Leukemia hijacks a neural mechanism to invade the central nervous system.</strong> Nature 560: 55-60, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30022166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30022166</a>] [<a href="https://doi.org/10.1038/s41586-018-0342-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30022166">Yao et al. (2018)</a> concluded that alpha-6 integrin expression, which is common in ALL, allows cells to use neural migratory pathways to invade the CNS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30022166" 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="Hogervorst, F., Kuikman, I., Geurts van Kessel, A., Sonnenberg, A. <strong>Molecular cloning of the human alpha-6 integrin subunit: alternative splicing of alpha-6 mRNA and chromosomal localization of the alpha-6 and beta-4 genes.</strong> Europ. J. Biochem. 199: 425-433, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2070796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2070796</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1991.tb16140.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2070796">Hogervorst et al. (1991)</a> mapped the ITGA6 gene to chromosome 2 by analysis of human-rodent somatic cell hybrids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2070796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using flow cytometry to track expression of adhesion molecules in human hematopoietic stem cells (HSCs), <a href="#5" class="mim-tip-reference" title="Notta, F., Doulatov, S., Laurenti, E., Poeppl, A., Jurisica, I., Dick, J. E. <strong>Isolation of single human hematopoietic stem cells capable of long-term multilineage engraftment.</strong> Science 333: 218-221, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21737740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21737740</a>] [<a href="https://doi.org/10.1126/science.1201219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21737740">Notta et al. (2011)</a> identified CD49F as a specific marker for CD34 (<a href="/entry/142230">142230</a>)-positive/THY1 (<a href="/entry/188230">188230</a>)-positive cells with high capacity to be long-term multipotent progenitors (MPPs). Single CD49F-positive/THY1-negative cells were highly efficient in generating long-term MPPs, whereas this potential was low in CD49F-negative/THY1-negative cells. <a href="#5" class="mim-tip-reference" title="Notta, F., Doulatov, S., Laurenti, E., Poeppl, A., Jurisica, I., Dick, J. E. <strong>Isolation of single human hematopoietic stem cells capable of long-term multilineage engraftment.</strong> Science 333: 218-221, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21737740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21737740</a>] [<a href="https://doi.org/10.1126/science.1201219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21737740">Notta et al. (2011)</a> concluded that CD49F is a marker for HSCs with MPP capacity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21737740" 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="#9" class="mim-tip-reference" title="Stumpf, A. M. <strong>Personal Communication.</strong> Baltimore, Md. 03/28/2022."None>Stumpf (2022)</a> mapped the ITGA6 gene to chromosome 2q31.1 based on an alignment of the ITGA6 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC136456" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC136456</a>) with the genomic sequence (GRCh38).</p>
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<p>Ruzzi et al. (<a href="#7" class="mim-tip-reference" title="Ruzzi, L., Gagnoux-Palacios, L., Pinola, M., Belli, S., Meneguzzi, G., Zambruno, G., D'Alessio, M. <strong>A homozygous mutation in the gene encoding integrin alpha6 in junctional epidermolysis bullosa with pyloric atresia. (Abstract)</strong> Medizinische Genetik 9: 13-14, 1997."None>1997</a>, <a href="#6" class="mim-tip-reference" title="Ruzzi, L., Gagnoux-Palacios, L., Pinola, M., Belli, S., Meneguzzi, G., D'Alessio, M., Zambruno, G. <strong>A homozygous mutation in the integrin alpha-6 gene in junctional epidermolysis bullosa with pyloric atresia.</strong> J. Clin. Invest. 99: 2826-2831, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9185503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9185503</a>] [<a href="https://doi.org/10.1172/JCI119474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9185503">1997</a>) found a homozygous mutation in the ITGA6 gene (<a href="#0001">147556.0001</a>) in a patient with junctional epidermolysis bullosa with pyloric atresia (JEB6; <a href="/entry/619817">619817</a>). Mutations in the gene encoding a cognate protein, ITGB4 (<a href="/entry/147557">147557</a>), had been demonstrated in a patient with the same disorder. Their results indicated that, despite the ability of alpha-6 to associate with both the beta-1 and the beta-4 integrin subunits and its expression in tissues where beta-4 is not found, mutations in either alpha-6 or beta-4 lead to the same disease. <a href="#7" class="mim-tip-reference" title="Ruzzi, L., Gagnoux-Palacios, L., Pinola, M., Belli, S., Meneguzzi, G., Zambruno, G., D'Alessio, M. <strong>A homozygous mutation in the gene encoding integrin alpha6 in junctional epidermolysis bullosa with pyloric atresia. (Abstract)</strong> Medizinische Genetik 9: 13-14, 1997."None>Ruzzi et al. (1997)</a> noted that mice with knockout of either of these genes also had extensive detachment of epidermis and other epithelia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9185503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a male infant with JEB-PA born of unaffected consanguineous Emirate Arabian parents, <a href="#1" class="mim-tip-reference" title="Allegra, M., Gagnoux-Palacios, L., Gache, Y., Roques, S., Lestringant, G., Ortonne, J. P., Meneguzzi, G. <strong>Rapid decay of alpha-6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia.</strong> J. Invest. Derm. 121: 1336-1343, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14675179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14675179</a>] [<a href="https://doi.org/10.1111/j.1523-1747.2003.12625.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14675179">Allegra et al. (2003)</a> identified homozygosity for a ser47-to leu mutation (S47L; <a href="#0002">147556.0002</a>) in the beta-propeller domain of ITGA6. Functional studies indicated that the S47L mutation triggers instability of alpha-6 integrin that was at least partially mediated by the lysosomal degradation pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14675179" 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="#8" class="mim-tip-reference" title="Schumann, H., Kiritsi, D., Pigors, M., Hausser, I., Kohlhase, J., Peters, J., Ott, H., Hyla-Klekot, L., Gacka, E., Sieron, A. L., Valari, M., Bruckner-Tuderman, L., Has, C. <strong>Phenotypic spectrum of epidermolysis bullosa associated with alpha-6-beta-4 integrin mutations.</strong> Brit. J. Derm. 169: 115-124, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23496044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23496044</a>] [<a href="https://doi.org/10.1111/bjd.12317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23496044">Schumann et al. (2013)</a> studied 8 epidermolysis bullosa patients with alpha-6/beta-4 mutations, 7 with homozygous or compound heterozygous mutations in ITGB4 and 1 with homozygous mutation in ITGA6 (<a href="#0003">147556.0003</a>). This patient had pyloric atresia and a severe phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23496044" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Japanese infant with lethal JEB-PA, <a href="#4" class="mim-tip-reference" title="Masunaga, T., Ogawa, J., Akiyama, M., Nishikawa, T., Shimizu, H., Ishiko, A. <strong>Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia.</strong> J. Derm. 44: 160-166, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27607025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27607025</a>] [<a href="https://doi.org/10.1111/1346-8138.13575" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27607025">Masunaga et al. (2017)</a> detected compound heterozygosity for splicing mutations in the ITGA6 gene (<a href="#0004">147556.0004</a> and <a href="#0005">147556.0005</a>). Both mutations resulted in exon skipping, with in-frame deletion or premature termination of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27607025" 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="#2" class="mim-tip-reference" title="Georges-Labouesse, E., Messaddeq, N., Yehia, G., Cadalbert, L., Dierich, A., Le Meur, M. <strong>Absence of integrin alpha-6 leads to epidermolysis bullosa and neonatal death in mice.</strong> Nature Genet. 13: 370-373, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8673141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8673141</a>] [<a href="https://doi.org/10.1038/ng0796-370" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8673141">Georges-Labouesse et al. (1996)</a> produced mice that were deficient in alpha-6 integrin through a targeted disruption of the alpha-6 integrin gene. The mice developed normally before birth but died shortly thereafter with severe blistering of the skin and other epithelia. The phenotype was reminiscent of human epidermolysis bullosa (see <a href="/entry/226700">226700</a>). Hemidesmosomes were absent from the mutant tissue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8673141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="/allelicVariants/147556" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=147556[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 6, WITH PYLORIC ATRESIA</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">rs2149047535 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2149047535;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=rs2149047535" 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=rs2149047535" 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=RCV002051631" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002051631" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002051631</a>
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<p>In an infant with junctional epidermolysis bullosa with pyloric atresia and esophageal stenosis (JEB6; <a href="/entry/619817">619817</a>), Ruzzi et al. (<a href="#7" class="mim-tip-reference" title="Ruzzi, L., Gagnoux-Palacios, L., Pinola, M., Belli, S., Meneguzzi, G., Zambruno, G., D'Alessio, M. <strong>A homozygous mutation in the gene encoding integrin alpha6 in junctional epidermolysis bullosa with pyloric atresia. (Abstract)</strong> Medizinische Genetik 9: 13-14, 1997."None>1997</a>, <a href="#6" class="mim-tip-reference" title="Ruzzi, L., Gagnoux-Palacios, L., Pinola, M., Belli, S., Meneguzzi, G., D'Alessio, M., Zambruno, G. <strong>A homozygous mutation in the integrin alpha-6 gene in junctional epidermolysis bullosa with pyloric atresia.</strong> J. Clin. Invest. 99: 2826-2831, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9185503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9185503</a>] [<a href="https://doi.org/10.1172/JCI119474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9185503">1997</a>) identified a homozygous 1-bp deletion (791delC) in the ITGA6 gene, resulting in a frameshift, premature termination, and with complete absence of alpha-6 integrin. Both parents were healthy, heterozygous carriers of the mutation. The child was born with extensive aplasia cutis and with multiple blisters and erosions over the trunk and limbs. Successful prenatal diagnosis was achieved in a later pregnancy with allele-specific oligonucleotide (ASO) analysis; skin biopsy at 16 weeks' gestation showed that the fetus was a heterozygous carrier. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9185503" 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 6, WITH PYLORIC ATRESIA</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> rs1377038208 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1377038208;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/rs1377038208?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=rs1377038208" 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=rs1377038208" 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=RCV002052423 OR RCV004798938" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002052423, RCV004798938" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002052423...</a>
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<p>In a male infant with junctional epidermolysis bullosa-6 with pyloric atresia (JEB6; <a href="/entry/619817">619817</a>), born of unaffected consanguineous Emirate Arabian parents, <a href="#1" class="mim-tip-reference" title="Allegra, M., Gagnoux-Palacios, L., Gache, Y., Roques, S., Lestringant, G., Ortonne, J. P., Meneguzzi, G. <strong>Rapid decay of alpha-6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia.</strong> J. Invest. Derm. 121: 1336-1343, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14675179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14675179</a>] [<a href="https://doi.org/10.1111/j.1523-1747.2003.12625.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14675179">Allegra et al. (2003)</a> identified a homozygous c.286C-T transition in exon 1 of the ITGA6 gene, resulting in a ser47-to leu (S47L) substitution in a highly conserved region of the first beta-strand of the 7-bladed beta-propeller structure in the extracellular head of alpha-6-integrin. The mutation was not detected among 100 healthy control individuals. Functional studies demonstrated that the mutation generated an unstable alpha-6 precursor that underwent rapid proteolysis involving the lysosomal degradation pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14675179" 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 6, WITH PYLORIC ATRESIA</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">rs2149041171 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2149041171;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=rs2149041171" 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=rs2149041171" 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=RCV002052424" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002052424" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002052424</a>
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<p>In a 3-month-old Turkish boy (patient 8) with junctional epidermolysis bullosa-6 with pyloric atresia (JEB6; <a href="/entry/619817">619817</a>), <a href="#8" class="mim-tip-reference" title="Schumann, H., Kiritsi, D., Pigors, M., Hausser, I., Kohlhase, J., Peters, J., Ott, H., Hyla-Klekot, L., Gacka, E., Sieron, A. L., Valari, M., Bruckner-Tuderman, L., Has, C. <strong>Phenotypic spectrum of epidermolysis bullosa associated with alpha-6-beta-4 integrin mutations.</strong> Brit. J. Derm. 169: 115-124, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23496044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23496044</a>] [<a href="https://doi.org/10.1111/bjd.12317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23496044">Schumann et al. (2013)</a> detected homozygosity for a splice site mutation in the ITGA6 gene (c.388-5T-G, NM_000210.2). No expression of alpha-6-integrin was detected by immunofluorescence of patient keratinocytes. The mutation, which occurred in the extracellular domain, was presumed to result in mRNA decay. The patient died at 3 months of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23496044" 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 6, WITH PYLORIC ATRESIA</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">rs2149039042 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2149039042;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=rs2149039042" 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=rs2149039042" 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=RCV002052425" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002052425" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002052425</a>
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<p>In a Japanese infant with lethal junctional epidermolysis bullosa-6 with pyloric atresia (JEB6; <a href="/entry/619817">619817</a>) <a href="#4" class="mim-tip-reference" title="Masunaga, T., Ogawa, J., Akiyama, M., Nishikawa, T., Shimizu, H., Ishiko, A. <strong>Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia.</strong> J. Derm. 44: 160-166, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27607025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27607025</a>] [<a href="https://doi.org/10.1111/1346-8138.13575" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27607025">Masunaga et al. (2017)</a> identified compound heterozygosity for splicing mutations in the ITGA6 gene. The maternal allele carried a c.387G-T transition at the last nucleotide of exon 3; the paternal allele carried a G-to-C transversion at the acceptor site of intron 19 (c.2506-1G-C; <a href="#0005">147556.0005</a>). The mutations resulted in exon skipping leading to in-frame deletion or premature termination and malfunctional integrin-beta-6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27607025" 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 6, WITH PYLORIC ATRESIA</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">rs2149078144 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2149078144;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=rs2149078144" 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=rs2149078144" 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=RCV002052426" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002052426" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002052426</a>
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<p>For discussion of a splice mutation (c.2506-1G-C) in the ITGA6 gene that was found in compound heterozygous state in a patient with junctional epidermolysis bullosa-6 with pyloric atresia (JEB6; <a href="/entry/619817">619817</a>) by <a href="#4" class="mim-tip-reference" title="Masunaga, T., Ogawa, J., Akiyama, M., Nishikawa, T., Shimizu, H., Ishiko, A. <strong>Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia.</strong> J. Derm. 44: 160-166, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27607025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27607025</a>] [<a href="https://doi.org/10.1111/1346-8138.13575" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27607025">Masunaga et al. (2017)</a>, see <a href="#0004">147556.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27607025" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<ol>
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<li>
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<a id="1" class="mim-anchor"></a>
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<a id="Allegra2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Allegra, M., Gagnoux-Palacios, L., Gache, Y., Roques, S., Lestringant, G., Ortonne, J. P., Meneguzzi, G.
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|
<strong>Rapid decay of alpha-6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia.</strong>
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J. Invest. Derm. 121: 1336-1343, 2003.
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[<a href="https://doi.org/10.1111/j.1523-1747.2003.12625.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Georges-Labouesse1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Georges-Labouesse, E., Messaddeq, N., Yehia, G., Cadalbert, L., Dierich, A., Le Meur, M.
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|
<strong>Absence of integrin alpha-6 leads to epidermolysis bullosa and neonatal death in mice.</strong>
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Nature Genet. 13: 370-373, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8673141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8673141</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8673141" 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/ng0796-370" 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="3" class="mim-anchor"></a>
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<a id="Hogervorst1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hogervorst, F., Kuikman, I., Geurts van Kessel, A., Sonnenberg, A.
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|
<strong>Molecular cloning of the human alpha-6 integrin subunit: alternative splicing of alpha-6 mRNA and chromosomal localization of the alpha-6 and beta-4 genes.</strong>
|
|
Europ. J. Biochem. 199: 425-433, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2070796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2070796</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2070796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1432-1033.1991.tb16140.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="4" class="mim-anchor"></a>
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<a id="Masunaga2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Masunaga, T., Ogawa, J., Akiyama, M., Nishikawa, T., Shimizu, H., Ishiko, A.
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<strong>Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia.</strong>
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J. Derm. 44: 160-166, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27607025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27607025</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27607025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/1346-8138.13575" 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="5" class="mim-anchor"></a>
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<a id="Notta2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Notta, F., Doulatov, S., Laurenti, E., Poeppl, A., Jurisica, I., Dick, J. E.
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<strong>Isolation of single human hematopoietic stem cells capable of long-term multilineage engraftment.</strong>
|
|
Science 333: 218-221, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21737740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21737740</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21737740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1201219" 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="Ruzzi1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ruzzi, L., Gagnoux-Palacios, L., Pinola, M., Belli, S., Meneguzzi, G., D'Alessio, M., Zambruno, G.
|
|
<strong>A homozygous mutation in the integrin alpha-6 gene in junctional epidermolysis bullosa with pyloric atresia.</strong>
|
|
J. Clin. Invest. 99: 2826-2831, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9185503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9185503</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9185503" 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/10.1172/JCI119474" 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="Ruzzi1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ruzzi, L., Gagnoux-Palacios, L., Pinola, M., Belli, S., Meneguzzi, G., Zambruno, G., D'Alessio, M.
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<strong>A homozygous mutation in the gene encoding integrin alpha6 in junctional epidermolysis bullosa with pyloric atresia. (Abstract)</strong>
|
|
Medizinische Genetik 9: 13-14, 1997.
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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="8" class="mim-anchor"></a>
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<a id="Schumann2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schumann, H., Kiritsi, D., Pigors, M., Hausser, I., Kohlhase, J., Peters, J., Ott, H., Hyla-Klekot, L., Gacka, E., Sieron, A. L., Valari, M., Bruckner-Tuderman, L., Has, C.
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<strong>Phenotypic spectrum of epidermolysis bullosa associated with alpha-6-beta-4 integrin mutations.</strong>
|
|
Brit. J. Derm. 169: 115-124, 2013.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23496044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23496044</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23496044" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/bjd.12317" 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="9" 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. 03/28/2022.
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</p>
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</div>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Tamura1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tamura, R. N., Rozzo, C., Starr, L., Chambers, J., Reichardt, L. F., Cooper, H. M., Quaranta, V.
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<strong>Epithelial integrin alpha-6/beta-4: complete primary structure of alpha-6 and variant forms of beta-4.</strong>
|
|
J. Cell Biol. 111: 1593-1604, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1976638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1976638</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1976638" 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.111.4.1593" 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="11" class="mim-anchor"></a>
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<a id="Yao2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yao, H., Price, T. T., Cantelli, G., Ngo, B., Warner, M. J., Olivere, L., Ridge, S. M., Jablonski, E. M., Therrien, J., Tannheimer, S., McCall, C. M., Chenn, A., Sipkins, D. A.
|
|
<strong>Leukemia hijacks a neural mechanism to invade the central nervous system.</strong>
|
|
Nature 560: 55-60, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30022166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30022166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30022166" 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/s41586-018-0342-5" 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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Ada Hamosh - updated : 09/18/2018<br>Paul J. Converse - updated : 8/19/2011<br>Victor A. McKusick - updated : 5/30/1997<br>Moyra Smith - updated : 7/1/1996
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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 : 3/3/1992
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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 : 09/18/2018<br>carol : 09/09/2013<br>mgross : 8/19/2011<br>terry : 8/19/2011<br>carol : 2/5/2009<br>ckniffin : 7/2/2008<br>alopez : 5/22/2003<br>dkim : 9/11/1998<br>mark : 12/8/1997<br>terry : 7/11/1997<br>mark : 6/2/1997<br>terry : 5/30/1997<br>mark : 7/1/1996<br>terry : 7/1/1996<br>terry : 7/1/1996<br>mark : 7/1/1996<br>carol : 10/26/1993<br>carol : 4/1/1992<br>supermim : 3/16/1992<br>carol : 3/3/1992
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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> 147556
|
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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>
|
|
<span class="mim-font">
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|
|
INTEGRIN, ALPHA-6; ITGA6
|
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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">
|
|
CD49F
|
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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>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: ITGA6</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">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 2q31.1
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 2:172,427,336-172,506,459 </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>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
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</tr>
|
|
</thead>
|
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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2q31.1
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</span>
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</td>
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<td>
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<span class="mim-font">
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Epidermolysis bullosa, junctional 6, with pyloric atresia
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</span>
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</td>
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<td>
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<span class="mim-font">
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619817
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Tamura et al. (1990) determined the complete primary structure of alpha-6, which is part of the integrin alpha-6/beta-4 (ITGB4; 147557) heterodimer expressed predominantly by epithelial cells. Hogervorst et al. (1991) isolated cDNAs encoding the alpha-6 subunit from a gamma-gt11 expression library from human keratinocytes. The alpha-6 subunit encoded by this cDNA consists of 1,050 amino acids with a 991-amino acid extracellular domain, a 23-amino acid transmembrane domain, and a 36-amino acid cytoplasmic domain. The alpha-6 subunit most closely resembles the alpha-3 subunit (ITGA3; 605025), which shows 40% identity. Hogervorst et al. (1991) stated that this high degree of similarity may be the basis for their functional resemblance, since both the alpha-3 and alpha-6 subunits, when associated with beta-1 (ITGB1; 135630), haven been shown to function as laminin receptors (150370) and to bind to the long arm of laminin (see 150320). </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>In mice, Yao et al. (2018) showed that acute lymphoblastic leukemia (ALL; 613065) cells in the circulation are unable to breach the blood-brain barrier; instead, they migrate into the central nervous system (CNS) along vessels that pass directly between vertebral or calvarial bone marrow and the subarachnoid space. The basement membrane of these bridging vessels is enriched in laminin (see 150320), which is known to coordinate pathfinding of neuronal progenitor cells in the CNS. The laminin receptor alpha-6 integrin is expressed in most cases of ALL. Yao et al. (2018) found that alpha-6 integrin-laminin interactions mediated the migration of ALL cells towards the cerebrospinal fluid in vitro. Mice with ALL xenografts were treated with either a PI3K-delta (PIK3CD; 602839) inhibitor, which decreased alpha-6 integrin expression on ALL cells, or specific alpha-6 integrin-neutralizing antibodies and showed significant reductions in ALL transit along bridging vessels, blast counts in the cerebrospinal fluid, and CNS disease symptoms despite minimally decreased bone marrow disease burden. Yao et al. (2018) concluded that alpha-6 integrin expression, which is common in ALL, allows cells to use neural migratory pathways to invade the CNS. </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>Hogervorst et al. (1991) mapped the ITGA6 gene to chromosome 2 by analysis of human-rodent somatic cell hybrids. </p><p>Using flow cytometry to track expression of adhesion molecules in human hematopoietic stem cells (HSCs), Notta et al. (2011) identified CD49F as a specific marker for CD34 (142230)-positive/THY1 (188230)-positive cells with high capacity to be long-term multipotent progenitors (MPPs). Single CD49F-positive/THY1-negative cells were highly efficient in generating long-term MPPs, whereas this potential was low in CD49F-negative/THY1-negative cells. Notta et al. (2011) concluded that CD49F is a marker for HSCs with MPP capacity. </p><p>Stumpf (2022) mapped the ITGA6 gene to chromosome 2q31.1 based on an alignment of the ITGA6 sequence (GenBank BC136456) 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>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>Ruzzi et al. (1997, 1997) found a homozygous mutation in the ITGA6 gene (147556.0001) in a patient with junctional epidermolysis bullosa with pyloric atresia (JEB6; 619817). Mutations in the gene encoding a cognate protein, ITGB4 (147557), had been demonstrated in a patient with the same disorder. Their results indicated that, despite the ability of alpha-6 to associate with both the beta-1 and the beta-4 integrin subunits and its expression in tissues where beta-4 is not found, mutations in either alpha-6 or beta-4 lead to the same disease. Ruzzi et al. (1997) noted that mice with knockout of either of these genes also had extensive detachment of epidermis and other epithelia. </p><p>In a male infant with JEB-PA born of unaffected consanguineous Emirate Arabian parents, Allegra et al. (2003) identified homozygosity for a ser47-to leu mutation (S47L; 147556.0002) in the beta-propeller domain of ITGA6. Functional studies indicated that the S47L mutation triggers instability of alpha-6 integrin that was at least partially mediated by the lysosomal degradation pathway. </p><p>Schumann et al. (2013) studied 8 epidermolysis bullosa patients with alpha-6/beta-4 mutations, 7 with homozygous or compound heterozygous mutations in ITGB4 and 1 with homozygous mutation in ITGA6 (147556.0003). This patient had pyloric atresia and a severe phenotype. </p><p>In a Japanese infant with lethal JEB-PA, Masunaga et al. (2017) detected compound heterozygosity for splicing mutations in the ITGA6 gene (147556.0004 and 147556.0005). Both mutations resulted in exon skipping, with in-frame deletion or premature termination of the protein. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Georges-Labouesse et al. (1996) produced mice that were deficient in alpha-6 integrin through a targeted disruption of the alpha-6 integrin gene. The mice developed normally before birth but died shortly thereafter with severe blistering of the skin and other epithelia. The phenotype was reminiscent of human epidermolysis bullosa (see 226700). Hemidesmosomes were absent from the mutant tissue. </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>5 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 6, WITH PYLORIC ATRESIA</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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ITGA6, 1-BP DEL, 791C
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<br />
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SNP: rs2149047535,
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ClinVar: RCV002051631
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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 an infant with junctional epidermolysis bullosa with pyloric atresia and esophageal stenosis (JEB6; 619817), Ruzzi et al. (1997, 1997) identified a homozygous 1-bp deletion (791delC) in the ITGA6 gene, resulting in a frameshift, premature termination, and with complete absence of alpha-6 integrin. Both parents were healthy, heterozygous carriers of the mutation. The child was born with extensive aplasia cutis and with multiple blisters and erosions over the trunk and limbs. Successful prenatal diagnosis was achieved in a later pregnancy with allele-specific oligonucleotide (ASO) analysis; skin biopsy at 16 weeks' gestation showed that the fetus was a heterozygous carrier. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA</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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ITGA6, SER47LEU
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<br />
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SNP: rs1377038208,
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gnomAD: rs1377038208,
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ClinVar: RCV002052423, RCV004798938
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a male infant with junctional epidermolysis bullosa-6 with pyloric atresia (JEB6; 619817), born of unaffected consanguineous Emirate Arabian parents, Allegra et al. (2003) identified a homozygous c.286C-T transition in exon 1 of the ITGA6 gene, resulting in a ser47-to leu (S47L) substitution in a highly conserved region of the first beta-strand of the 7-bladed beta-propeller structure in the extracellular head of alpha-6-integrin. The mutation was not detected among 100 healthy control individuals. Functional studies demonstrated that the mutation generated an unstable alpha-6 precursor that underwent rapid proteolysis involving the lysosomal degradation pathway. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0003 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA</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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ITGA6, 388-5T-G
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<br />
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SNP: rs2149041171,
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ClinVar: RCV002052424
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a 3-month-old Turkish boy (patient 8) with junctional epidermolysis bullosa-6 with pyloric atresia (JEB6; 619817), Schumann et al. (2013) detected homozygosity for a splice site mutation in the ITGA6 gene (c.388-5T-G, NM_000210.2). No expression of alpha-6-integrin was detected by immunofluorescence of patient keratinocytes. The mutation, which occurred in the extracellular domain, was presumed to result in mRNA decay. The patient died at 3 months of age. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0004 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA</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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ITGA6, 387G-T
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<br />
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SNP: rs2149039042,
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ClinVar: RCV002052425
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese infant with lethal junctional epidermolysis bullosa-6 with pyloric atresia (JEB6; 619817) Masunaga et al. (2017) identified compound heterozygosity for splicing mutations in the ITGA6 gene. The maternal allele carried a c.387G-T transition at the last nucleotide of exon 3; the paternal allele carried a G-to-C transversion at the acceptor site of intron 19 (c.2506-1G-C; 147556.0005). The mutations resulted in exon skipping leading to in-frame deletion or premature termination and malfunctional integrin-beta-6. </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>.0005 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA</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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ITGA6, IVS19, G-C, -1
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<br />
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SNP: rs2149078144,
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ClinVar: RCV002052426
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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>For discussion of a splice mutation (c.2506-1G-C) in the ITGA6 gene that was found in compound heterozygous state in a patient with junctional epidermolysis bullosa-6 with pyloric atresia (JEB6; 619817) by Masunaga et al. (2017), see 147556.0004. </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>REFERENCES</strong>
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</span>
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</h4>
|
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<div>
|
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Allegra, M., Gagnoux-Palacios, L., Gache, Y., Roques, S., Lestringant, G., Ortonne, J. P., Meneguzzi, G.
|
|
<strong>Rapid decay of alpha-6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia.</strong>
|
|
J. Invest. Derm. 121: 1336-1343, 2003.
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[PubMed: 14675179]
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[Full Text: https://doi.org/10.1111/j.1523-1747.2003.12625.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Georges-Labouesse, E., Messaddeq, N., Yehia, G., Cadalbert, L., Dierich, A., Le Meur, M.
|
|
<strong>Absence of integrin alpha-6 leads to epidermolysis bullosa and neonatal death in mice.</strong>
|
|
Nature Genet. 13: 370-373, 1996.
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[PubMed: 8673141]
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[Full Text: https://doi.org/10.1038/ng0796-370]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Hogervorst, F., Kuikman, I., Geurts van Kessel, A., Sonnenberg, A.
|
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<strong>Molecular cloning of the human alpha-6 integrin subunit: alternative splicing of alpha-6 mRNA and chromosomal localization of the alpha-6 and beta-4 genes.</strong>
|
|
Europ. J. Biochem. 199: 425-433, 1991.
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[PubMed: 2070796]
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[Full Text: https://doi.org/10.1111/j.1432-1033.1991.tb16140.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Masunaga, T., Ogawa, J., Akiyama, M., Nishikawa, T., Shimizu, H., Ishiko, A.
|
|
<strong>Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia.</strong>
|
|
J. Derm. 44: 160-166, 2017.
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[PubMed: 27607025]
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[Full Text: https://doi.org/10.1111/1346-8138.13575]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Notta, F., Doulatov, S., Laurenti, E., Poeppl, A., Jurisica, I., Dick, J. E.
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<strong>Isolation of single human hematopoietic stem cells capable of long-term multilineage engraftment.</strong>
|
|
Science 333: 218-221, 2011.
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[PubMed: 21737740]
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[Full Text: https://doi.org/10.1126/science.1201219]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ruzzi, L., Gagnoux-Palacios, L., Pinola, M., Belli, S., Meneguzzi, G., D'Alessio, M., Zambruno, G.
|
|
<strong>A homozygous mutation in the integrin alpha-6 gene in junctional epidermolysis bullosa with pyloric atresia.</strong>
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|
J. Clin. Invest. 99: 2826-2831, 1997.
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[PubMed: 9185503]
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[Full Text: https://doi.org/10.1172/JCI119474]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Ruzzi, L., Gagnoux-Palacios, L., Pinola, M., Belli, S., Meneguzzi, G., Zambruno, G., D'Alessio, M.
|
|
<strong>A homozygous mutation in the gene encoding integrin alpha6 in junctional epidermolysis bullosa with pyloric atresia. (Abstract)</strong>
|
|
Medizinische Genetik 9: 13-14, 1997.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Schumann, H., Kiritsi, D., Pigors, M., Hausser, I., Kohlhase, J., Peters, J., Ott, H., Hyla-Klekot, L., Gacka, E., Sieron, A. L., Valari, M., Bruckner-Tuderman, L., Has, C.
|
|
<strong>Phenotypic spectrum of epidermolysis bullosa associated with alpha-6-beta-4 integrin mutations.</strong>
|
|
Brit. J. Derm. 169: 115-124, 2013.
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[PubMed: 23496044]
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[Full Text: https://doi.org/10.1111/bjd.12317]
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</p>
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</li>
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Stumpf, A. M.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 03/28/2022.
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</li>
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Tamura, R. N., Rozzo, C., Starr, L., Chambers, J., Reichardt, L. F., Cooper, H. M., Quaranta, V.
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<strong>Epithelial integrin alpha-6/beta-4: complete primary structure of alpha-6 and variant forms of beta-4.</strong>
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J. Cell Biol. 111: 1593-1604, 1990.
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[PubMed: 1976638]
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[Full Text: https://doi.org/10.1083/jcb.111.4.1593]
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Yao, H., Price, T. T., Cantelli, G., Ngo, B., Warner, M. J., Olivere, L., Ridge, S. M., Jablonski, E. M., Therrien, J., Tannheimer, S., McCall, C. M., Chenn, A., Sipkins, D. A.
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<strong>Leukemia hijacks a neural mechanism to invade the central nervous system.</strong>
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Nature 560: 55-60, 2018.
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[PubMed: 30022166]
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[Full Text: https://doi.org/10.1038/s41586-018-0342-5]
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Anne M. Stumpf - updated : 03/29/2022<br>Ada Hamosh - updated : 09/18/2018<br>Paul J. Converse - updated : 8/19/2011<br>Victor A. McKusick - updated : 5/30/1997<br>Moyra Smith - updated : 7/1/1996
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Victor A. McKusick : 3/3/1992
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