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- *120190 - COLLAGEN, TYPE V, ALPHA-2; COL5A2
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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">*120190</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/120190">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000204262;t=ENST00000374866" 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=1290" 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=120190" 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=ENSG00000204262;t=ENST00000374866" 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_000393,XM_011510573,XM_047443251,XM_047443252" 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_000393" 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=120190" 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=00366&isoform_id=00366_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/COL5A2" 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/179694,179696,179698,180428,180913,553235,1340175,2370202,16197599,16197600,27696688,56270269,62087670,62988798,89363017,119631311,119631312,119631313,143811378,194388568,194390326,583075132,583765370,767916580,2217325474,2217325476,2462569954" 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/P05997" 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=1290" 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=ENSG00000204262;t=ENST00000374866" 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=COL5A2" 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=COL5A2" 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+1290" 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/COL5A2" 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:1290" 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/1290" 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=ENST00000747641.1&hgg_start=189031898&hgg_end=189441111&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:2210" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/col5a2" 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=120190[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=120190[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/COL5A2/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000204262" 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=COL5A2" 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=COL5A2" 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=COL5A2" 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="http://www.le.ac.uk/genetics/collagen/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=COL5A2&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/PA26725" 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:2210" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:88458" 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/COL5A2#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:88458" 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/1290/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/OMIA002295/" 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=1290" 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://zfin.org/ZDB-GENE-030616-13" 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:1290" 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=COL5A2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1287094005<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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120190
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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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COLLAGEN, TYPE V, ALPHA-2; COL5A2
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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>
|
|
<span class="mim-font">
|
|
AB COLLAGEN
|
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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>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=COL5A2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">COL5A2</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>
|
|
Cytogenetic location: <a href="/geneMap/2/855?start=-3&limit=10&highlight=855">2q32.2</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:189031898-189441111&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'})">2:189,031,898-189,441,111</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<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>
|
|
Location
|
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</th>
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<th>
|
|
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>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/855?start=-3&limit=10&highlight=855">
|
|
2q32.2
|
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</a>
|
|
</span>
|
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</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Ehlers-Danlos syndrome, classic type, 2
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/130010"> 130010 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/120190" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/120190" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</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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<p>Type V collagen has 3 varieties of alpha chains: alpha-1 (COL5A1, <a href="/entry/120215">120215</a>); alpha-2 (COL5A2), and alpha-3 (COL5A3; <a href="/entry/120216">120216</a>). It has a specific pericellular distribution and is not considered an interstitial collagen. It is thought also to provide an inner core for large collagen fibers. Thus, collagen V may aid in the orientation of large diameter fibers. (summary by <a href="#4" class="mim-tip-reference" title="Emanuel, B. S., Cannizzaro, L. A., Seyer, J. M., Myers, J. C. <strong>Human alpha-1(III) and alpha-2(V) procollagen genes are located on the long arm of chromosome 2.</strong> Proc. Nat. Acad. Sci. 82: 3385-3389, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3858826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3858826</a>] [<a href="https://doi.org/10.1073/pnas.82.10.3385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3858826">Emanuel et al., 1985</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3858826" 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="Burgeson, R. E., El Adli, F. A., Kaitila, I. J., Hollister, D. W. <strong>Fetal membrane collagens: identification of two new collagen alpha chains.</strong> Proc. Nat. Acad. Sci. 73: 2579-2583, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1066666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1066666</a>] [<a href="https://doi.org/10.1073/pnas.73.8.2579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1066666">Burgeson et al. (1976)</a> identified in human fetal membranes (placenta) 2 novel genetically distinct collagen polypeptide chains, which are subunits of a hitherto unknown molecular species of collagen. They were tentatively labeled alpha-A and alpha-B. The existence of a 'new' species of collagen containing one A and two B alpha chains was suggested. This is called collagen V and presumably is determined by 2 loci. Placental collagen is sometimes referred to as AB collagen. Some have considered it to consist of 2 separate molecules, one composed of 3 alpha-A chains and one composed of 3 alpha-B chains. Others view it as a trimer of 1 alpha-A and 2 alpha-B chains. <a href="#2" class="mim-tip-reference" title="Brown, R. A., Weiss, J. B. <strong>Type V collagen: possible shared identity of alpha-A, alpha-B and alpha-C chains.</strong> FEBS Lett. 106: 71-75, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/499505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">499505</a>] [<a href="https://doi.org/10.1016/0014-5793(79)80697-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="499505">Brown and Weiss (1979)</a> concluded that these are 2 separate molecules (and perhaps a third consisting of 3 alpha-C chains), the first option, and that all 3 chains are derived from one basic chain through posttranslational modification. Type V collagen is usually found between the basement membrane and interstitial space. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=499505+1066666" 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="#4" class="mim-tip-reference" title="Emanuel, B. S., Cannizzaro, L. A., Seyer, J. M., Myers, J. C. <strong>Human alpha-1(III) and alpha-2(V) procollagen genes are located on the long arm of chromosome 2.</strong> Proc. Nat. Acad. Sci. 82: 3385-3389, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3858826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3858826</a>] [<a href="https://doi.org/10.1073/pnas.82.10.3385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3858826">Emanuel et al. (1985)</a> concluded that both the alpha-1(III) and the alpha-2(V) procollagen genes map to 2q24.3-q31. To the time of this report, this was the only example of synteny of procollagen genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3858826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By in situ hybridization and analysis of DNA from somatic cell hybrids, <a href="#6" class="mim-tip-reference" title="Huerre-Jeanpierre, C., Henry, I., Bernard, M., Gallano, P., Weil, D., Grzeschik, K.-H., Ramirez, F., Junien, C. <strong>The pro-alpha-2(V) collagen gene (COL5A2) maps to 2q14-2q32, syntenic to the pro-alpha-1(III) collagen locus (COL3A1).</strong> Hum. Genet. 73: 64-67, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3011647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3011647</a>] [<a href="https://doi.org/10.1007/BF00292666" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3011647">Huerre-Jeanpierre et al. (1986)</a> obtained results consistent with the assignment of COL5A2 to 2q24.3-q31 by <a href="#4" class="mim-tip-reference" title="Emanuel, B. S., Cannizzaro, L. A., Seyer, J. M., Myers, J. C. <strong>Human alpha-1(III) and alpha-2(V) procollagen genes are located on the long arm of chromosome 2.</strong> Proc. Nat. Acad. Sci. 82: 3385-3389, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3858826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3858826</a>] [<a href="https://doi.org/10.1073/pnas.82.10.3385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3858826">Emanuel et al. (1985)</a>. <a href="#13" class="mim-tip-reference" title="Tsipouras, P., Schwartz, R. C., Liddell, A. C., Salkeld, C. S., Weil, D., Ramirez, F. <strong>Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2.</strong> Genomics 3: 275-277, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3224983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3224983</a>] [<a href="https://doi.org/10.1016/0888-7543(88)90089-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3224983">Tsipouras et al. (1988)</a> demonstrated that the COL3A1 locus (<a href="/entry/120180">120180</a>) and the COL5A2 locus are very close together; they found a maximum lod score of 9.33 at a recombination fraction of 0.00. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3011647+3224983+3858826" 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="#5" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 10/28/2013."None>Hartz (2013)</a> mapped the COL5A2 gene to chromosome 2q32.2 based on an alignment of the COL5A2 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=Y14690" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">Y14690</a>) with the genomic sequence (GRCh37).</p>
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<p>By microarray analysis, <a href="#7" class="mim-tip-reference" title="Jun, A. S., Liu, S. H., Koo, E. H., Do, D. V., Stark, W. J., Gottsch, J. D. <strong>Microarray analysis of gene expression in human donor corneas.</strong> Arch. Ophthal. 119: 1629-1634, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709013</a>] [<a href="https://doi.org/10.1001/archopht.119.11.1629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11709013">Jun et al. (2001)</a> demonstrated expression of the COL5A2 gene in human donor corneas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709013" 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="#9" class="mim-tip-reference" title="Michalickova, K., Susic, M., Willing, M. C., Wenstrup, R. J., Cole, W. G. <strong>Mutations of the alpha-2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I.</strong> Hum. Molec. Genet. 7: 249-255, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9425231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9425231</a>] [<a href="https://doi.org/10.1093/hmg/7.2.249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9425231">Michalickova et al. (1998)</a> identified mutations in the COL5A2 gene in 2 unrelated patients with Ehlers-Danlos classic type 2 (EDSCL2; <a href="/entry/130010">130010</a>) (formerly the severe type I form of EDS). The first proband was heterozygous for a 7-bp deletion that resulted in skipping of exon 27 (<a href="#0001">120190.0001</a>), whereas the second proband was heterozygous for a single-nucleotide substitution that resulted in skipping of exon 28 (<a href="#0002">120190.0002</a>). Cultured dermal fibroblasts from both probands produced about equal amounts of the normal and mutant alpha-2(V) mRNAs and protein chains. The dermis from the first proband contained a sparse collagen fibrillar network with great variability in collagen fibril sizes and shapes. The dermal collagens were also abnormally soluble. Bone cells from the first proband also produced about equal amounts of the normal and mutant mRNAs. However, the collagen fibrillar architecture and collagen solubility of the bone matrix were normal. The findings indicated that heterozygous mutations in the COL5A2 gene can produce the classic severe phenotype. <a href="#9" class="mim-tip-reference" title="Michalickova, K., Susic, M., Willing, M. C., Wenstrup, R. J., Cole, W. G. <strong>Mutations of the alpha-2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I.</strong> Hum. Molec. Genet. 7: 249-255, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9425231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9425231</a>] [<a href="https://doi.org/10.1093/hmg/7.2.249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9425231">Michalickova et al. (1998)</a> suggested that type V collagen plays a more important role in collagen fibrillogenesis of dermis rather than of bone. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9425231" 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="#12" class="mim-tip-reference" title="Symoens, S., Syx, D., Malfait, F., Callewaert, B., De Backer, J., Vanakker, O., Coucke, P., De Paepe, A. <strong>Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.</strong> Hum. Mutat. 33: 1485-1493, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22696272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22696272</a>] [<a href="https://doi.org/10.1002/humu.22137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22696272">Symoens et al. (2012)</a> analyzed COL5A1 (<a href="/entry/120215">120215</a>) and COL5A2 in 126 patients with a diagnosis or suspicion of classic EDS. In 93 patients, a type V collagen defect was found, of which 73 were COL5A1 mutations (see EDSCL1, <a href="/entry/130000">130000</a>), 13 were COL5A2 mutations, and 7 were COL5A1 null-alleles (see <a href="/entry/130000">130000</a> and <a href="/entry/130010">130010</a>) with mutation unknown. The majority of the 73 COL5A1 mutations generated a COL5A1 null-allele, whereas one-third were structural mutations, scattered throughout COL5A1. All COL5A2 mutations were structural mutations. Reduced availability of type V collagen appeared to be the major disease-causing mechanism, besides other intra- and extracellular contributing factors. All type V collagen defects were identified within a group of 102 patients fulfilling all major clinical Villefranche criteria, that is, skin hyperextensibility, dystrophic scarring and joint hypermobility. No COL5A1/COL5A2 mutation was detected in 24 patients who displayed skin and joint hyperextensibility but lacked dystrophic scarring. Overall, over 90% of patients fulfilling all major Villefranche criteria for classic EDS were shown to harbor a type V collagen defect, indicating that this is the major, if not the only, cause of classic EDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22696272" 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>The tissue-specific organization of collagen molecules into tridimensional macroaggregates determines the physiomechanical properties of most connective tissues. It had been postulated that quantitatively minor types V and XI collagen regulate the growth of type I and type II collagen fibrils, respectively. To test this hypothesis, <a href="#1" class="mim-tip-reference" title="Andrikopoulos, K., Liu, X., Keene, D. R., Jaenisch, R., Ramirez, F. <strong>Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly.</strong> Nature Genet. 9: 31-36, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7704020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7704020</a>] [<a href="https://doi.org/10.1038/ng0195-31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7704020">Andrikopoulos et al. (1995)</a> created mice homozygous for deletion of the Col5a2 gene. These mice survived poorly, possibly because of complications from spinal deformities, and exhibited skin and eye abnormalities caused by disorganized type I collagen fibrils. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7704020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs786205103 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205103;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=rs786205103" 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=rs786205103" 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=RCV000018736" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018736" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018736</a>
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<p><a href="#9" class="mim-tip-reference" title="Michalickova, K., Susic, M., Willing, M. C., Wenstrup, R. J., Cole, W. G. <strong>Mutations of the alpha-2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I.</strong> Hum. Molec. Genet. 7: 249-255, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9425231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9425231</a>] [<a href="https://doi.org/10.1093/hmg/7.2.249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9425231">Michalickova et al. (1998)</a> screened 28 unrelated individuals and families with typical classic Ehlers-Danlos syndrome for mutations in type V collagen. Of 26 patients in whom no mutations were identified in the COL5A1 gene, they identified abnormalities of COL5A2 cDNA in 2 patients (EDSCL2; <a href="/entry/130010">130010</a>). In 1 proband (patient EDS3), the mutation was a 54-bp deletion in heterozygous state (nucleotides 1924-1977 of COL5A2 cDNA). The deletion removed 18 amino acids, gly430 to pro447, from the triple helical domain of the alpha-2(V) chain. The region corresponded to a 54-bp exon, tentatively considered exon 27. This was thought to be due to deletion of the splice acceptor site as a result of a 7-bp deletion that included the consensus ag dinucleotide of the 3-prime splice site of intron 26 and the most 5-prime nucleotides of exon 27. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9425231" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs786205104 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205104;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=rs786205104" 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=rs786205104" 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=RCV000018737" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018737" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018737</a>
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<p>See <a href="#0001">120190.0001</a>. In a patient (patient EDS38) with classic Ehlers-Danlos syndrome (EDSCL2; <a href="/entry/130010">130010</a>), <a href="#9" class="mim-tip-reference" title="Michalickova, K., Susic, M., Willing, M. C., Wenstrup, R. J., Cole, W. G. <strong>Mutations of the alpha-2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I.</strong> Hum. Molec. Genet. 7: 249-255, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9425231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9425231</a>] [<a href="https://doi.org/10.1093/hmg/7.2.249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9425231">Michalickova et al. (1998)</a> found a heterozygous deletion of 54 bp, removing 18 amino acids from the triple helical domain of the alpha-2(V) chain. In this case, however, nucleotides 1978 to 2031 were removed. It was thought that the mutation had resulted in deletion of exon 28. The patient was found to be heterozygous for a single nucleotide substitution that changed the consensus gt dinucleotide of the 5-prime splice donor of intron 28 to tt. They concluded from the nature of the mutation that the missing splice donor site caused exon 28 to be skipped during splicing of the mutant allele of COL5A2. Studies in the parents indicated that this was a new mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9425231" 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 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2</strong>
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COL5A2, GLY934ARG
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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> rs121912930 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912930;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/rs121912930?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=rs121912930" 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=rs121912930" 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=RCV000018738 OR RCV002513108" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018738, RCV002513108" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018738...</a>
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<p>In 3 family members with classic Ehlers-Danlos syndrome (EDSCL2; <a href="/entry/130010">130010</a>), <a href="#10" class="mim-tip-reference" title="Richards, A. J., Martin, S., Nicholls, A. C., Harrison, J. B., Pope, F. M., Burrows, N. P. <strong>A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.</strong> J. Med. Genet. 35: 846-848, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9783710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9783710</a>] [<a href="https://doi.org/10.1136/jmg.35.10.846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9783710">Richards et al. (1998)</a> found a G-C base change in the COL5A2 gene, resulting in the substitution of arginine for glycine within the triple helical domain at position 934. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9783710" 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 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2</strong>
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COL5A2, c.2544+2delT
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1553514506 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553514506;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=rs1553514506" 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=rs1553514506" 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=RCV000609676" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000609676" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000609676</a>
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<p>In a patient (patient EDS2) with classic Ehlers-Danlos syndrome (EDSCL2; <a href="/entry/130010">130010</a>), <a href="#8" class="mim-tip-reference" title="Malfait, F., Coucke, P., Symoens, S., Loeys, B., Nuytinck, L., De Paepe, A. <strong>The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.</strong> Hum. Mutat. 25: 28-37, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15580559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15580559</a>] [<a href="https://doi.org/10.1002/humu.20107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15580559">Malfait et al. (2005)</a> identified a splice site mutation (c.2544+2delT, NM_000393.2) in the COL5A2 gene, predicted to result in the skipping of exon 36. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15580559" 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 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2</strong>
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COL5A2, 1-BP DEL, 4289T
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1553512393 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553512393;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=rs1553512393" 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=rs1553512393" 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=RCV000615676" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000615676" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000615676</a>
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<p>In a patient (patient EDS2) with classic Ehlers-Danlos syndrome (EDSCL2; <a href="/entry/130010">130010</a>), <a href="#8" class="mim-tip-reference" title="Malfait, F., Coucke, P., Symoens, S., Loeys, B., Nuytinck, L., De Paepe, A. <strong>The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.</strong> Hum. Mutat. 25: 28-37, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15580559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15580559</a>] [<a href="https://doi.org/10.1002/humu.20107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15580559">Malfait et al. (2005)</a> identified a 1-bp deletion (c.4289delT) in the COL5A2 gene, predicted to result in a frameshift and a premature termination codon (c.4289delT, NM_000393.2). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15580559" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2</strong>
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COL5A2, c.3139-2A-G
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1553513971 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553513971;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=rs1553513971" 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=rs1553513971" 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=RCV000604241" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000604241" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000604241</a>
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<p>In a patient (patient EDS6) with classic Ehlers-Danlos syndrome (EDSCL2; <a href="/entry/130010">130010</a>), <a href="#8" class="mim-tip-reference" title="Malfait, F., Coucke, P., Symoens, S., Loeys, B., Nuytinck, L., De Paepe, A. <strong>The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.</strong> Hum. Mutat. 25: 28-37, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15580559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15580559</a>] [<a href="https://doi.org/10.1002/humu.20107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15580559">Malfait et al. (2005)</a> identified a splice site mutation (c.3139-2A-G, NM_000393.2) in the COL5A2 gene, predicted to result in deletion of exon 43. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15580559" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2</strong>
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COL5A2, c.1608+4T-C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1553515517 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553515517;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=rs1553515517" 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=rs1553515517" 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=RCV000610100" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000610100" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000610100</a>
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<p>In a patient (patient EDS22) with classic Ehlers-Danlos syndrome (EDSCL2; <a href="/entry/130010">130010</a>), <a href="#8" class="mim-tip-reference" title="Malfait, F., Coucke, P., Symoens, S., Loeys, B., Nuytinck, L., De Paepe, A. <strong>The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.</strong> Hum. Mutat. 25: 28-37, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15580559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15580559</a>] [<a href="https://doi.org/10.1002/humu.20107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15580559">Malfait et al. (2005)</a> identified a splice site mutation (c.1608+4T-C, NM_000393.2) in the COL5A2 gene, predicted to result in deletion of exon 22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15580559" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
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<strong>See Also:</strong>
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<a href="#Sage1979" class="mim-tip-reference" title="Sage, H., Bornstein, P. <strong>Characterization of a novel collagen chain in human placenta and its relation to AB collagen.</strong> Biochemistry 18: 3815-3822, 1979.">Sage and Bornstein (1979)</a>; <a href="#van1985" class="mim-tip-reference" title="van der Rest, M., Niyibizi, C., Fietzek, P. P. <strong>Human placental alpha-1(V)alpha-2(V)alpha-3(V) and [alpha-1(V)]-2-alpha-2(V) collagen heterotrimers.</strong> Ann. N.Y. Acad. Sci. 460: 517-519, 1985.">van der Rest et al. (1985)</a>
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<strong>REFERENCES</strong>
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<a id="Andrikopoulos1995" class="mim-anchor"></a>
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Andrikopoulos, K., Liu, X., Keene, D. R., Jaenisch, R., Ramirez, F.
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<strong>Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly.</strong>
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Nature Genet. 9: 31-36, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7704020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7704020</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7704020" 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/ng0195-31" target="_blank">Full Text</a>]
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Brown, R. A., Weiss, J. B.
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<strong>Type V collagen: possible shared identity of alpha-A, alpha-B and alpha-C chains.</strong>
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FEBS Lett. 106: 71-75, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/499505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">499505</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=499505" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0014-5793(79)80697-3" target="_blank">Full Text</a>]
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<a id="Burgeson1976" class="mim-anchor"></a>
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Burgeson, R. E., El Adli, F. A., Kaitila, I. J., Hollister, D. W.
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<strong>Fetal membrane collagens: identification of two new collagen alpha chains.</strong>
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Proc. Nat. Acad. Sci. 73: 2579-2583, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1066666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1066666</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1066666" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Emanuel1985" class="mim-anchor"></a>
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Emanuel, B. S., Cannizzaro, L. A., Seyer, J. M., Myers, J. C.
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<strong>Human alpha-1(III) and alpha-2(V) procollagen genes are located on the long arm of chromosome 2.</strong>
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Proc. Nat. Acad. Sci. 82: 3385-3389, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3858826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3858826</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3858826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.82.10.3385" target="_blank">Full Text</a>]
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<a id="Hartz2013" class="mim-anchor"></a>
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 10/28/2013.
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Huerre-Jeanpierre, C., Henry, I., Bernard, M., Gallano, P., Weil, D., Grzeschik, K.-H., Ramirez, F., Junien, C.
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<strong>The pro-alpha-2(V) collagen gene (COL5A2) maps to 2q14-2q32, syntenic to the pro-alpha-1(III) collagen locus (COL3A1).</strong>
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Hum. Genet. 73: 64-67, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3011647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3011647</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3011647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00292666" target="_blank">Full Text</a>]
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<a id="Jun2001" class="mim-anchor"></a>
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Jun, A. S., Liu, S. H., Koo, E. H., Do, D. V., Stark, W. J., Gottsch, J. D.
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<strong>Microarray analysis of gene expression in human donor corneas.</strong>
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Arch. Ophthal. 119: 1629-1634, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709013</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Malfait2005" class="mim-anchor"></a>
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Malfait, F., Coucke, P., Symoens, S., Loeys, B., Nuytinck, L., De Paepe, A.
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<strong>The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.</strong>
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Hum. Mutat. 25: 28-37, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15580559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15580559</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15580559" 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/10.1002/humu.20107" target="_blank">Full Text</a>]
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Michalickova, K., Susic, M., Willing, M. C., Wenstrup, R. J., Cole, W. G.
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<strong>Mutations of the alpha-2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I.</strong>
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Hum. Molec. Genet. 7: 249-255, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9425231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9425231</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9425231" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/7.2.249" target="_blank">Full Text</a>]
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Richards, A. J., Martin, S., Nicholls, A. C., Harrison, J. B., Pope, F. M., Burrows, N. P.
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<strong>A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.</strong>
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J. Med. Genet. 35: 846-848, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9783710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9783710</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9783710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Sage, H., Bornstein, P.
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<strong>Characterization of a novel collagen chain in human placenta and its relation to AB collagen.</strong>
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Biochemistry 18: 3815-3822, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/224919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">224919</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=224919" 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/10.1021/bi00584a027" target="_blank">Full Text</a>]
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Symoens, S., Syx, D., Malfait, F., Callewaert, B., De Backer, J., Vanakker, O., Coucke, P., De Paepe, A.
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<strong>Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.</strong>
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Hum. Mutat. 33: 1485-1493, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22696272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22696272</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22696272" 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/10.1002/humu.22137" target="_blank">Full Text</a>]
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Tsipouras1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tsipouras, P., Schwartz, R. C., Liddell, A. C., Salkeld, C. S., Weil, D., Ramirez, F.
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<strong>Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2.</strong>
|
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Genomics 3: 275-277, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3224983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3224983</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3224983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(88)90089-4" 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="14" class="mim-anchor"></a>
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<a id="van der Rest1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van der Rest, M., Niyibizi, C., Fietzek, P. P.
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<strong>Human placental alpha-1(V)alpha-2(V)alpha-3(V) and [alpha-1(V)]-2-alpha-2(V) collagen heterotrimers.</strong>
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|
Ann. N.Y. Acad. Sci. 460: 517-519, 1985.
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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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Patricia A. Hartz - updated : 10/28/2013
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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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Nara Sobreira - updated : 2/25/2013<br>Jane Kelly - updated : 12/6/2002<br>Victor A. McKusick - updated : 8/9/2002<br>Michael J. Wright - updated : 11/9/1998<br>Victor A. McKusick - updated : 4/15/1998
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 11/14/2018
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/05/2018<br>carol : 12/21/2017<br>carol : 12/21/2017<br>carol : 04/13/2015<br>mgross : 10/28/2013<br>carol : 2/25/2013<br>alopez : 8/20/2012<br>carol : 12/6/2002<br>tkritzer : 8/15/2002<br>tkritzer : 8/13/2002<br>tkritzer : 8/13/2002<br>terry : 8/9/2002<br>carol : 7/5/2001<br>alopez : 12/11/1998<br>terry : 11/9/1998<br>carol : 4/17/1998<br>terry : 4/15/1998<br>joanna : 11/12/1996<br>mark : 1/5/1996<br>terry : 1/3/1996<br>terry : 12/26/1995<br>supermim : 3/16/1992<br>carol : 10/1/1991<br>carol : 8/24/1990<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>root : 11/11/1988
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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> 120190
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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COLLAGEN, TYPE V, ALPHA-2; COL5A2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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AB COLLAGEN
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: COL5A2</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1287094005;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 2q32.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:189,031,898-189,441,111 </span>
|
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</em>
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</strong>
|
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
2q32.2
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Ehlers-Danlos syndrome, classic type, 2
|
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
130010
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
|
3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Description</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Type V collagen has 3 varieties of alpha chains: alpha-1 (COL5A1, 120215); alpha-2 (COL5A2), and alpha-3 (COL5A3; 120216). It has a specific pericellular distribution and is not considered an interstitial collagen. It is thought also to provide an inner core for large collagen fibers. Thus, collagen V may aid in the orientation of large diameter fibers. (summary by Emanuel et al., 1985). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Burgeson et al. (1976) identified in human fetal membranes (placenta) 2 novel genetically distinct collagen polypeptide chains, which are subunits of a hitherto unknown molecular species of collagen. They were tentatively labeled alpha-A and alpha-B. The existence of a 'new' species of collagen containing one A and two B alpha chains was suggested. This is called collagen V and presumably is determined by 2 loci. Placental collagen is sometimes referred to as AB collagen. Some have considered it to consist of 2 separate molecules, one composed of 3 alpha-A chains and one composed of 3 alpha-B chains. Others view it as a trimer of 1 alpha-A and 2 alpha-B chains. Brown and Weiss (1979) concluded that these are 2 separate molecules (and perhaps a third consisting of 3 alpha-C chains), the first option, and that all 3 chains are derived from one basic chain through posttranslational modification. Type V collagen is usually found between the basement membrane and interstitial space. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>Emanuel et al. (1985) concluded that both the alpha-1(III) and the alpha-2(V) procollagen genes map to 2q24.3-q31. To the time of this report, this was the only example of synteny of procollagen genes. </p><p>By in situ hybridization and analysis of DNA from somatic cell hybrids, Huerre-Jeanpierre et al. (1986) obtained results consistent with the assignment of COL5A2 to 2q24.3-q31 by Emanuel et al. (1985). Tsipouras et al. (1988) demonstrated that the COL3A1 locus (120180) and the COL5A2 locus are very close together; they found a maximum lod score of 9.33 at a recombination fraction of 0.00. </p><p>Hartz (2013) mapped the COL5A2 gene to chromosome 2q32.2 based on an alignment of the COL5A2 sequence (GenBank Y14690) with the genomic sequence (GRCh37).</p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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<span class="mim-text-font">
|
|
<p>By microarray analysis, Jun et al. (2001) demonstrated expression of the COL5A2 gene in human donor corneas. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Michalickova et al. (1998) identified mutations in the COL5A2 gene in 2 unrelated patients with Ehlers-Danlos classic type 2 (EDSCL2; 130010) (formerly the severe type I form of EDS). The first proband was heterozygous for a 7-bp deletion that resulted in skipping of exon 27 (120190.0001), whereas the second proband was heterozygous for a single-nucleotide substitution that resulted in skipping of exon 28 (120190.0002). Cultured dermal fibroblasts from both probands produced about equal amounts of the normal and mutant alpha-2(V) mRNAs and protein chains. The dermis from the first proband contained a sparse collagen fibrillar network with great variability in collagen fibril sizes and shapes. The dermal collagens were also abnormally soluble. Bone cells from the first proband also produced about equal amounts of the normal and mutant mRNAs. However, the collagen fibrillar architecture and collagen solubility of the bone matrix were normal. The findings indicated that heterozygous mutations in the COL5A2 gene can produce the classic severe phenotype. Michalickova et al. (1998) suggested that type V collagen plays a more important role in collagen fibrillogenesis of dermis rather than of bone. </p><p>Symoens et al. (2012) analyzed COL5A1 (120215) and COL5A2 in 126 patients with a diagnosis or suspicion of classic EDS. In 93 patients, a type V collagen defect was found, of which 73 were COL5A1 mutations (see EDSCL1, 130000), 13 were COL5A2 mutations, and 7 were COL5A1 null-alleles (see 130000 and 130010) with mutation unknown. The majority of the 73 COL5A1 mutations generated a COL5A1 null-allele, whereas one-third were structural mutations, scattered throughout COL5A1. All COL5A2 mutations were structural mutations. Reduced availability of type V collagen appeared to be the major disease-causing mechanism, besides other intra- and extracellular contributing factors. All type V collagen defects were identified within a group of 102 patients fulfilling all major clinical Villefranche criteria, that is, skin hyperextensibility, dystrophic scarring and joint hypermobility. No COL5A1/COL5A2 mutation was detected in 24 patients who displayed skin and joint hyperextensibility but lacked dystrophic scarring. Overall, over 90% of patients fulfilling all major Villefranche criteria for classic EDS were shown to harbor a type V collagen defect, indicating that this is the major, if not the only, cause of classic EDS. </p>
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</span>
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<div>
|
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>The tissue-specific organization of collagen molecules into tridimensional macroaggregates determines the physiomechanical properties of most connective tissues. It had been postulated that quantitatively minor types V and XI collagen regulate the growth of type I and type II collagen fibrils, respectively. To test this hypothesis, Andrikopoulos et al. (1995) created mice homozygous for deletion of the Col5a2 gene. These mice survived poorly, possibly because of complications from spinal deformities, and exhibited skin and eye abnormalities caused by disorganized type I collagen fibrils. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
|
<strong>7 Selected Examples):</strong>
|
|
</span>
|
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</h4>
|
|
<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>
|
|
<span class="mim-font">
|
|
<strong>.0001 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
|
COL5A2, 7-BP DEL
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<br />
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|
|
SNP: rs786205103,
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|
|
ClinVar: RCV000018736
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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>Michalickova et al. (1998) screened 28 unrelated individuals and families with typical classic Ehlers-Danlos syndrome for mutations in type V collagen. Of 26 patients in whom no mutations were identified in the COL5A1 gene, they identified abnormalities of COL5A2 cDNA in 2 patients (EDSCL2; 130010). In 1 proband (patient EDS3), the mutation was a 54-bp deletion in heterozygous state (nucleotides 1924-1977 of COL5A2 cDNA). The deletion removed 18 amino acids, gly430 to pro447, from the triple helical domain of the alpha-2(V) chain. The region corresponded to a 54-bp exon, tentatively considered exon 27. This was thought to be due to deletion of the splice acceptor site as a result of a 7-bp deletion that included the consensus ag dinucleotide of the 3-prime splice site of intron 26 and the most 5-prime nucleotides of exon 27. </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 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2</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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COL5A2, IVS28DS, G-T, +1
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<br />
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SNP: rs786205104,
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ClinVar: RCV000018737
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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>See 120190.0001. In a patient (patient EDS38) with classic Ehlers-Danlos syndrome (EDSCL2; 130010), Michalickova et al. (1998) found a heterozygous deletion of 54 bp, removing 18 amino acids from the triple helical domain of the alpha-2(V) chain. In this case, however, nucleotides 1978 to 2031 were removed. It was thought that the mutation had resulted in deletion of exon 28. The patient was found to be heterozygous for a single nucleotide substitution that changed the consensus gt dinucleotide of the 5-prime splice donor of intron 28 to tt. They concluded from the nature of the mutation that the missing splice donor site caused exon 28 to be skipped during splicing of the mutant allele of COL5A2. Studies in the parents indicated that this was a new mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0003 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2</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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COL5A2, GLY934ARG
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<br />
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SNP: rs121912930,
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gnomAD: rs121912930,
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ClinVar: RCV000018738, RCV002513108
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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 3 family members with classic Ehlers-Danlos syndrome (EDSCL2; 130010), Richards et al. (1998) found a G-C base change in the COL5A2 gene, resulting in the substitution of arginine for glycine within the triple helical domain at position 934. </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>.0004 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2</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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COL5A2, c.2544+2delT
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<br />
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SNP: rs1553514506,
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ClinVar: RCV000609676
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient (patient EDS2) with classic Ehlers-Danlos syndrome (EDSCL2; 130010), Malfait et al. (2005) identified a splice site mutation (c.2544+2delT, NM_000393.2) in the COL5A2 gene, predicted to result in the skipping of exon 36. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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COL5A2, 1-BP DEL, 4289T
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<br />
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SNP: rs1553512393,
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|
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ClinVar: RCV000615676
|
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|
|
|
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</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (patient EDS2) with classic Ehlers-Danlos syndrome (EDSCL2; 130010), Malfait et al. (2005) identified a 1-bp deletion (c.4289delT) in the COL5A2 gene, predicted to result in a frameshift and a premature termination codon (c.4289delT, NM_000393.2). </p>
|
|
</span>
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</div>
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<div>
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|
<br />
|
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL5A2, c.3139-2A-G
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<br />
|
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|
|
SNP: rs1553513971,
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|
|
ClinVar: RCV000604241
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (patient EDS6) with classic Ehlers-Danlos syndrome (EDSCL2; 130010), Malfait et al. (2005) identified a splice site mutation (c.3139-2A-G, NM_000393.2) in the COL5A2 gene, predicted to result in deletion of exon 43. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
|
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|
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</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL5A2, c.1608+4T-C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1553515517,
|
|
|
|
|
|
|
|
ClinVar: RCV000610100
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (patient EDS22) with classic Ehlers-Danlos syndrome (EDSCL2; 130010), Malfait et al. (2005) identified a splice site mutation (c.1608+4T-C, NM_000393.2) in the COL5A2 gene, predicted to result in deletion of exon 22. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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</div>
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|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Sage and Bornstein (1979); van der Rest et al. (1985)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Andrikopoulos, K., Liu, X., Keene, D. R., Jaenisch, R., Ramirez, F.
|
|
<strong>Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly.</strong>
|
|
Nature Genet. 9: 31-36, 1995.
|
|
|
|
|
|
[PubMed: 7704020]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0195-31]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brown, R. A., Weiss, J. B.
|
|
<strong>Type V collagen: possible shared identity of alpha-A, alpha-B and alpha-C chains.</strong>
|
|
FEBS Lett. 106: 71-75, 1979.
|
|
|
|
|
|
[PubMed: 499505]
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|
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|
|
[Full Text: https://doi.org/10.1016/0014-5793(79)80697-3]
|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Burgeson, R. E., El Adli, F. A., Kaitila, I. J., Hollister, D. W.
|
|
<strong>Fetal membrane collagens: identification of two new collagen alpha chains.</strong>
|
|
Proc. Nat. Acad. Sci. 73: 2579-2583, 1976.
|
|
|
|
|
|
[PubMed: 1066666]
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|
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|
|
[Full Text: https://doi.org/10.1073/pnas.73.8.2579]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Emanuel, B. S., Cannizzaro, L. A., Seyer, J. M., Myers, J. C.
|
|
<strong>Human alpha-1(III) and alpha-2(V) procollagen genes are located on the long arm of chromosome 2.</strong>
|
|
Proc. Nat. Acad. Sci. 82: 3385-3389, 1985.
|
|
|
|
|
|
[PubMed: 3858826]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.82.10.3385]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hartz, P. A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 10/28/2013.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Huerre-Jeanpierre, C., Henry, I., Bernard, M., Gallano, P., Weil, D., Grzeschik, K.-H., Ramirez, F., Junien, C.
|
|
<strong>The pro-alpha-2(V) collagen gene (COL5A2) maps to 2q14-2q32, syntenic to the pro-alpha-1(III) collagen locus (COL3A1).</strong>
|
|
Hum. Genet. 73: 64-67, 1986.
|
|
|
|
|
|
[PubMed: 3011647]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00292666]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jun, A. S., Liu, S. H., Koo, E. H., Do, D. V., Stark, W. J., Gottsch, J. D.
|
|
<strong>Microarray analysis of gene expression in human donor corneas.</strong>
|
|
Arch. Ophthal. 119: 1629-1634, 2001.
|
|
|
|
|
|
[PubMed: 11709013]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archopht.119.11.1629]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Malfait, F., Coucke, P., Symoens, S., Loeys, B., Nuytinck, L., De Paepe, A.
|
|
<strong>The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.</strong>
|
|
Hum. Mutat. 25: 28-37, 2005.
|
|
|
|
|
|
[PubMed: 15580559]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.20107]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Michalickova, K., Susic, M., Willing, M. C., Wenstrup, R. J., Cole, W. G.
|
|
<strong>Mutations of the alpha-2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I.</strong>
|
|
Hum. Molec. Genet. 7: 249-255, 1998.
|
|
|
|
|
|
[PubMed: 9425231]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/7.2.249]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Richards, A. J., Martin, S., Nicholls, A. C., Harrison, J. B., Pope, F. M., Burrows, N. P.
|
|
<strong>A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.</strong>
|
|
J. Med. Genet. 35: 846-848, 1998.
|
|
|
|
|
|
[PubMed: 9783710]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.35.10.846]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sage, H., Bornstein, P.
|
|
<strong>Characterization of a novel collagen chain in human placenta and its relation to AB collagen.</strong>
|
|
Biochemistry 18: 3815-3822, 1979.
|
|
|
|
|
|
[PubMed: 224919]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1021/bi00584a027]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Symoens, S., Syx, D., Malfait, F., Callewaert, B., De Backer, J., Vanakker, O., Coucke, P., De Paepe, A.
|
|
<strong>Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.</strong>
|
|
Hum. Mutat. 33: 1485-1493, 2012.
|
|
|
|
|
|
[PubMed: 22696272]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.22137]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Tsipouras, P., Schwartz, R. C., Liddell, A. C., Salkeld, C. S., Weil, D., Ramirez, F.
|
|
<strong>Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2.</strong>
|
|
Genomics 3: 275-277, 1988.
|
|
|
|
|
|
[PubMed: 3224983]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(88)90089-4]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
van der Rest, M., Niyibizi, C., Fietzek, P. P.
|
|
<strong>Human placental alpha-1(V)alpha-2(V)alpha-3(V) and [alpha-1(V)]-2-alpha-2(V) collagen heterotrimers.</strong>
|
|
Ann. N.Y. Acad. Sci. 460: 517-519, 1985.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
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|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Patricia A. Hartz - updated : 10/28/2013<br>Nara Sobreira - updated : 2/25/2013<br>Jane Kelly - updated : 12/6/2002<br>Victor A. McKusick - updated : 8/9/2002<br>Michael J. Wright - updated : 11/9/1998<br>Victor A. McKusick - updated : 4/15/1998
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
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|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/4/1986
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Edit History:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 11/14/2018<br>carol : 04/05/2018<br>carol : 12/21/2017<br>carol : 12/21/2017<br>carol : 04/13/2015<br>mgross : 10/28/2013<br>carol : 2/25/2013<br>alopez : 8/20/2012<br>carol : 12/6/2002<br>tkritzer : 8/15/2002<br>tkritzer : 8/13/2002<br>tkritzer : 8/13/2002<br>terry : 8/9/2002<br>carol : 7/5/2001<br>alopez : 12/11/1998<br>terry : 11/9/1998<br>carol : 4/17/1998<br>terry : 4/15/1998<br>joanna : 11/12/1996<br>mark : 1/5/1996<br>terry : 1/3/1996<br>terry : 12/26/1995<br>supermim : 3/16/1992<br>carol : 10/1/1991<br>carol : 8/24/1990<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>root : 11/11/1988
|
|
</span>
|
|
</div>
|
|
</div>
|
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</div>
|
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<div>
|
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<br />
|
|
</div>
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