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Entry
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- *613785 - COMPLEMENT COMPONENT 1, r SUBCOMPONENT; C1R
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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">*613785</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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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/613785">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<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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<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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<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 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 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=ENSG00000159403;t=ENST00000647956" 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=715" 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=613785" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<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=ENSG00000159403;t=ENST00000647956" 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_001354346,NM_001733" 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_001733" 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=613785" 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://www.proteinatlas.org/search/C1R" 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/29539,179644,23243256,39573703,62896521,62896541,119609093,119609094,158256062,194383502,194391088,218511956,1237937960,1237938340" 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/P00736" 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=715" 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=ENSG00000159403;t=ENST00000647956" 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=C1R" 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=C1R" 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+715" 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/C1R" 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:715" 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/715" 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=chr12&hgg_gene=ENST00000647956.2&hgg_start=7080219&hgg_end=7092445&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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613785[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=613785[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000159403" 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=C1R" 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=C1R" 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=C1R" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=C1R&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/PA25635" 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:1246" 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/search?q=MGI:1355313 MGI:3779804" 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/C1R#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/batch/summary?idType=MGI&ids=MGI:1355313 MGI:3779804" 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/715/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://www.orthodb.org/?ncbi=715" 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-050913-24" 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:715" 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=C1R&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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613785
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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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COMPLEMENT COMPONENT 1, r SUBCOMPONENT; C1R
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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COMPLEMENT COMPONENT C1r
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=C1R" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">C1R</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/12/90?start=-3&limit=10&highlight=90">12p13.31</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:7080219-7092445&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'})">12:7,080,219-7,092,445</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/12/90?start=-3&limit=10&highlight=90">
|
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12p13.31
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Ehlers-Danlos syndrome, periodontal type, 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/130080"> 130080 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal 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">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/613785" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613785" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>The complement system is a major mediator of innate immunity. The first enzymatic event in the cascade of the classical pathway of complement is the activation of its first component, C1. C1 is a multimolecular complex consisting of 2 loosely interacting entities: C1q (see <a href="/entry/120550">120550</a>), the recognition subunit, and C1r(2)/C1s(2), the catalytic one. C1r(2)/C1s(2) is a tetrameric Ca(2+)-dependent complex of C1r and C1s (<a href="/entry/120580">120580</a>), 2 serine-proteinase zymogens. C1r acts by transforming the activation signal (the fixation of C1q on activating reagents, e.g., immune complexes) into an enzymic activity (summary by <a href="#5" class="mim-tip-reference" title="Journet, A., Tosi, M. <strong>Cloning and sequencing of full-length cDNA encoding the precursor of human complement component C1r.</strong> Biochem. J. 240: 783-787, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3030286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3030286</a>] [<a href="https://doi.org/10.1042/bj2400783" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3030286">Journet and Tosi, 1986</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3030286" 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>
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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><a href="#12" class="mim-tip-reference" title="Leytus, S. P., Kurachi, K., Sakariassen, K. S., Davie, E. W. <strong>Nucleotide sequence of the cDNA coding for human complement C1r.</strong> Biochemistry 25: 4855-4863, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3021205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3021205</a>] [<a href="https://doi.org/10.1021/bi00365a020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3021205">Leytus et al. (1986)</a> reported the nucleotide sequence for cDNA coding for C1r. <a href="#5" class="mim-tip-reference" title="Journet, A., Tosi, M. <strong>Cloning and sequencing of full-length cDNA encoding the precursor of human complement component C1r.</strong> Biochem. J. 240: 783-787, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3030286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3030286</a>] [<a href="https://doi.org/10.1042/bj2400783" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3030286">Journet and Tosi (1986)</a> cloned and sequenced a full-length cDNA for the C1r precursor, which contains a 17-amino acid leader peptide, followed by a mature 688-amino acid protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3021205+3030286" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By means of a cDNA in somatic cell hybrids, <a href="#2" class="mim-tip-reference" title="Cohen-Haguenauer, O., Serero, S., Tosi, M., Van Cong, N., Stubnicer, A.-C., de Tand, M.-F., Meo, T., Frezal, J. <strong>Chromosomal assignment of human C1R, C1S genes on chromosome 12 and C1 inhibitor gene on chromosome 11. (Abstract)</strong> 7th International Congress of Human Genetics, Berlin 1986. P. 617."None>Cohen-Haguenauer et al. (1986)</a> assigned the C1R and C1S genes to chromosome 12. <a href="#11" class="mim-tip-reference" title="Leppert, M., Ferrell, R., Kamboh, M. I., Beasley, J., O'Connell, P., Lathrop, M., Lalouel, J. M., White, R. <strong>Linkage of the polymorphic protein markers F13B, C1S, C1R, and blood group antigen Kidd in CEPH reference families. (Abstract)</strong> Cytogenet. Cell Genet. 46: 647 only, 1987."None>Leppert et al. (1987)</a> found a maximum lod score of 5.99 at theta = 0.038 for linkage between C1S and one of the PRP loci (see <a href="/entry/168710">168710</a>); the maximum lod score between C1R and another PRP locus was 4.21 at theta = 0.001. Although C1r and C1s are structurally and functionally similar, with a significant degree of sequence homology suggesting origin by gene duplication, cDNA probes for human C1r and C1s do not cross-hybridize even at mild stringency conditions and are therefore gene-specific. Using a panel of human-rodent cell hybrids, <a href="#14" class="mim-tip-reference" title="Nguyen, V. C., Tosi, M., Gross, M. S., Cohen-Haguenauer, O., Jegou-Foubert, C., de Tand, M. F., Meo, T., Frezal, J. <strong>Assignment of the complement serine protease genes C1r and C1s to chromosome 12 region 12p13.</strong> Hum. Genet. 78: 363-368, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2834284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2834284</a>] [<a href="https://doi.org/10.1007/BF00291737" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2834284">Nguyen et al. (1988)</a> independently assigned the C1r and C1s genes to chromosome 12. In situ hybridization confirmed these assignments and localized the genes to 12p13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2834284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study of 5 families heterozygous at both the C1R and the C1S locus, <a href="#13" class="mim-tip-reference" title="Lyons, L. A., Kamboh, M. I., Ferrell, R. E. <strong>Genetic studies of low-abundance human plasma proteins. XI. Linkage analysis and population genetics of the C1S subcomponent of the first complement component.</strong> Complement Inflamm. 6: 81-87, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2541966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2541966</a>] [<a href="https://doi.org/10.1159/000463078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2541966">Lyons et al. (1989)</a> found evidence consistent with, but not proving, linkage of the loci; maximum lod score = 1.505 at theta = 0.00. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2541966" 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 hybridization of C1r and C1s probes to restriction endonuclease fragments of genomic DNA, <a href="#19" class="mim-tip-reference" title="Tosi, M., Duponchel, C., Meo, T., Julier, C. <strong>Complete cDNA sequence of human complement C1s and close physical linkage of the homologous genes C1s and C1r.</strong> Biochemistry 26: 8516-8524, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2831944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2831944</a>] [<a href="https://doi.org/10.1021/bi00400a004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2831944">Tosi et al. (1987)</a> demonstrated close physical linkage of the genes. This finding was consistent with their evolution through tandem gene duplication and was also consistent with the previously observed combined hereditary deficiencies of C1r and C1s (see <a href="/entry/216950">216950</a>). Their coordinate expression may depend on the close linkage. The 2 genes lie in a DNA stretch not longer than 50 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2831944" 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 DNA blotting and sequencing analyses of genomic DNA and of an isolated genomic DNA clone, <a href="#10" class="mim-tip-reference" title="Kusumoto, H., Hirosawa, S., Salier, J. P., Hagen, F. S., Kurachi, K. <strong>Human genes for complement components C1r and C1s in a close tail-to-tail arrangement.</strong> Proc. Nat. Acad. Sci. 85: 7307-7311, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2459702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2459702</a>] [<a href="https://doi.org/10.1073/pnas.85.19.7307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2459702">Kusumoto et al. (1988)</a> showed that the C1r and C1s genes are closely located in a 'tail-to-tail' arrangement at a distance of about 9.5 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2459702" 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="#6" class="mim-tip-reference" title="Kamboh, M. I., Ferrell, R. E. <strong>Genetic studies of low abundance human plasma proteins. III. Polymorphism of the C1R subcomponent of the first complement component.</strong> Am. J. Hum. Genet. 39: 826-831, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3026176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3026176</a>]" pmid="3026176">Kamboh and Ferrell (1986)</a> demonstrated genetic polymorphism of C1R using the high-resolving power of isoelectric focusing in 6M urea followed by immunoblotting. <a href="#8" class="mim-tip-reference" title="Kamboh, M. I., Lyons, L., Ferrell, R. E. <strong>Genetic studies of low-abundance human plasma proteins. IX. A new allele at the complement subcomponent C1R structural locus.</strong> Hum. Genet. 81: 93-94, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3198132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3198132</a>] [<a href="https://doi.org/10.1007/BF00283738" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3198132">Kamboh et al. (1988)</a> described a new allele by isoelectric focusing and immunoblotting. Using the same methods, <a href="#7" class="mim-tip-reference" title="Kamboh, M. I., Lyons, L. A., Ferrell, R. E. <strong>Genetic studies of low-abundance human plasma proteins. XIII. Population genetics of C1R complement subcomponent and description of new variants.</strong> Am. J. Hum. Genet. 44: 148-153, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2535773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2535773</a>]" pmid="2535773">Kamboh et al. (1989)</a> described 5 new alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3198132+2535773+3026176" 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>Data on gene frequencies of allelic variants were tabulated by <a href="#17" class="mim-tip-reference" title="Roychoudhury, A. K., Nei, M. <strong>Human Polymorphic Genes: World Distribution.</strong> New York: Oxford Univ. Press (pub.) 1988."None>Roychoudhury and Nei (1988)</a>.</p><p><strong><em>Ehlers-Danlos Syndrome, Periodontal Type, 1</em></strong></p><p>
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In affected members of 15 unrelated families with the periodontal type of Ehlers-Danlos syndrome (EDSPD1; <a href="/entry/130080">130080</a>), <a href="#9" class="mim-tip-reference" title="Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others. <strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong> Am. J. Hum. Genet. 99: 1005-1014, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27745832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27745832</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27745832[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27745832">Kapferer-Seebacher et al. (2016)</a> identified heterozygosity for missense or in-frame insertion/deletion mutations in the C1R gene (see, e.g., <a href="#0001">613785.0001</a>-<a href="#0007">613785.0007</a>). The mutations segregated with disease in the families and none of the mutations were found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. The authors stated that the mutations appeared to have gain-of-function effects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27745832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a large 5-generation Austrian family (family 1) with the periodontal type of Ehlers-Danlos syndrome (EDSPD1; <a href="/entry/130080">130080</a>), <a href="#9" class="mim-tip-reference" title="Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others. <strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong> Am. J. Hum. Genet. 99: 1005-1014, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27745832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27745832</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27745832[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27745832">Kapferer-Seebacher et al. (2016)</a> identified heterozygosity for a c.149_150TC-AT change (c.149_150TC-AT, NM_001733.4) in the C1R gene, resulting in a val50-to-asp substitution (val32-to-asp (V32D) in the mature protein) at an evolutionarily conserved residue within the CUB1 collagen-binding domain. The mutation segregated fully with disease in the family, and was not found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. Western blots of HEK293 cells and supernatants in which V50D had been overexpressed indicated that the abnormal C1R protein was retained in the cell but could undergo autoactivation that might lead to interaction with off-target substrates. In addition, mutation-transfected cells showed an increased proportion of dilated cisternae of the rough endoplasmic reticulum compared to controls. <a href="#9" class="mim-tip-reference" title="Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others. <strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong> Am. J. Hum. Genet. 99: 1005-1014, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27745832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27745832</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27745832[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27745832">Kapferer-Seebacher et al. (2016)</a> noted that unlike previously reported families with EDSPD, none of the affected individuals in this family exhibited pretibial discoloration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27745832" 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">rs1057518645 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1057518645;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=rs1057518645" 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=rs1057518645" 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=RCV000258068 OR RCV000755118" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000258068, RCV000755118" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000258068...</a>
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<p>In the proband from a family (family 11) with the periodontal type of Ehlers-Danlos syndrome (EDSPD1; <a href="/entry/130080">130080</a>) that was originally reported by <a href="#18" class="mim-tip-reference" title="Stewart, R. E., Hollister, D. W., Rimoin, D. L. <strong>A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontosis.</strong> Birth Defects Orig. Art. Ser. XIII(3B): 85-93, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/890102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">890102</a>]" pmid="890102">Stewart et al. (1977)</a>, <a href="#9" class="mim-tip-reference" title="Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others. <strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong> Am. J. Hum. Genet. 99: 1005-1014, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27745832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27745832</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27745832[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27745832">Kapferer-Seebacher et al. (2016)</a> identified heterozygosity for a c.1073G-T transversion (c.1073G-T, NM_001733.4) in the C1R gene, resulting in a cys358-to-phe substitution (cys340-to-phe (C340F) in the mature protein) within the Sushi CCP1 domain. The mutation was not found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=890102+27745832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs769707492 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs769707492;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/rs769707492?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=rs769707492" 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=rs769707492" 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=RCV000258072 OR RCV000755116" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000258072, RCV000755116" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000258072...</a>
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<p>In the probands from 2 unrelated families (families 8 and 9) with the periodontal type of Ehlers-Danlos syndrome (EDSPD1; <a href="/entry/130080">130080</a>), 1 of which was previously reported by <a href="#4" class="mim-tip-reference" title="Hartsfield, J. K., Jr., Kousseff, B. G. <strong>Phenotypic overlap of Ehlers-Danlos syndrome types IV and VIII.</strong> Am. J. Med. Genet. 37: 465-470, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2260589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2260589</a>] [<a href="https://doi.org/10.1002/ajmg.1320370408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2260589">Hartsfield and Kousseff (1990)</a>, <a href="#9" class="mim-tip-reference" title="Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others. <strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong> Am. J. Hum. Genet. 99: 1005-1014, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27745832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27745832</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27745832[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27745832">Kapferer-Seebacher et al. (2016)</a> identified heterozygosity for a c.927C-G transversion (c.927C-G, NM_001733.4) in the C1R gene, resulting in a cys309-to-trp substitution (cys291-to-trp (C291W) in the mature protein) within the Sushi CCP1 domain. The mutation segregated with disease in the family for which DNA was available from family members and was not found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. Western blots of HEK293 cells and supernatants in which C309W had been overexpressed indicated that the abnormal C1R protein was retained in the cell but could undergo autoactivation that might lead to interaction with off-target substrates. In addition, mutation-transfected cells showed an increased proportion of dilated cisternae of the rough endoplasmic reticulum compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=27745832+2260589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs760277934 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs760277934;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/rs760277934?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=rs760277934" 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=rs760277934" 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=RCV000258069 OR RCV000755113" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000258069, RCV000755113" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000258069...</a>
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<p>In the proband from a 5-generation Swedish family (family 5) with the periodontal type of Ehlers-Danlos syndrome (EDSPD1; <a href="/entry/130080">130080</a>), previously studied by <a href="#15" class="mim-tip-reference" title="Rahman, N., Dunstan, M., Teare, M. D., Hanks, S., Douglas, J., Coleman, K., Bottomly, W. E., Campbell, M. E., Berglund, B., Nordenskjold, M., Forssell, B., Burrows, N., Lunt, P., Young, I., Williams, N., Bignell, G. R., Futreal, P. A., Pope, F. M. <strong>Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.</strong> Am. J. Hum. Genet. 73: 198-204, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12776252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12776252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12776252[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/376416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12776252">Rahman et al. (2003)</a>, <a href="#9" class="mim-tip-reference" title="Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others. <strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong> Am. J. Hum. Genet. 99: 1005-1014, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27745832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27745832</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27745832[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27745832">Kapferer-Seebacher et al. (2016)</a> identified heterozygosity for a c.902G-C transversion (c.902G-C, NM_001733.4) in the C1R gene, resulting in an arg301-to-pro substitution (arg283-to-pr0 (R301P) in the mature protein) at an evolutionarily conserved residue within the CUB2 domain. The mutation was not found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=27745832+12776252" 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">rs1057515579 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1057515579;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=rs1057515579" 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=rs1057515579" 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=RCV000258067 OR RCV000755112" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000258067, RCV000755112" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000258067...</a>
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<p>In a 7-year-old girl, her father, and paternal grandfather (family 4), who had the periodontal type of Ehlers-Danlos syndrome (EDSPD1; <a href="/entry/130080">130080</a>) and were previously studied by <a href="#16" class="mim-tip-reference" title="Reinstein, E., DeLozier, C. D., Simon, Z., Bannykh, S., Rimoin, D. L., Curry, C. J. <strong>Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.</strong> Europ. J. Hum. Genet. 21: 233-236, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22739343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22739343</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22739343[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22739343">Reinstein et al. (2013)</a>, <a href="#9" class="mim-tip-reference" title="Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others. <strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong> Am. J. Hum. Genet. 99: 1005-1014, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27745832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27745832</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27745832[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27745832">Kapferer-Seebacher et al. (2016)</a> identified heterozygosity for a c.899T-C transition (c.899 T-C, NM_001733.4) in the C1R gene, resulting in a leu300-to-pro substitution (leu282-to-pro (L300P) in the mature protein) at an evolutionarily conserved residue within the CUB2 domain. The mutation, which was not found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases, was also not detected in the paternal great-grandfather, who exhibited the dental features of periodontal EDS but no skin or joint findings; <a href="#9" class="mim-tip-reference" title="Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others. <strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong> Am. J. Hum. Genet. 99: 1005-1014, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27745832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27745832</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27745832[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27745832">Kapferer-Seebacher et al. (2016)</a> concluded that the mutation occurred de novo in the grandfather or was mosaic in the great-grandfather. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=27745832+22739343" 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">rs1057518646 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1057518646;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=rs1057518646" 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=rs1057518646" 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=RCV000258071 OR RCV000755115" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000258071, RCV000755115" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000258071...</a>
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<p>In a 42-year-old woman (family 7) with the periodontal type of Ehlers-Danlos syndrome (EDSPD1; <a href="/entry/130080">130080</a>), previously reported by <a href="#1" class="mim-tip-reference" title="Cikla, U., Sadighi, A., Bauer, A., Baskaya, M. K. <strong>Fatal ruptured blood blister-like aneurysm of middle cerebral artery associated with Ehlers-Danlos syndrome type VIII (periodontitis type).</strong> J. Neurol. Surg. Rep. 75: e210-e213, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25485215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25485215</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25485215[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1055/s-0034-1387185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25485215">Cikla et al. (2014)</a>, <a href="#9" class="mim-tip-reference" title="Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others. <strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong> Am. J. Hum. Genet. 99: 1005-1014, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27745832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27745832</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27745832[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27745832">Kapferer-Seebacher et al. (2016)</a> identified heterozygosity for an in-frame deletion/insertion mutation (c.917_927delinsGGACA, NM_001733.4) in the C1R gene, predicted to result in an Ile306_Cys309del/insArgArg change (Ile288_Cys291del/insArgArg in the mature protein) within the Sushi CCP1 domain. The mutation was not found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. The proband died of cerebral hemorrhage from an aneurysm of the left middle cerebral artery. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25485215+27745832" 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">rs1057518643 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1057518643;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=rs1057518643" 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=rs1057518643" 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=RCV000258064 OR RCV000755110" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000258064, RCV000755110" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000258064...</a>
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<p>In a 33-year-old woman (family 2) with the periodontal type of Ehlers-Danlos syndrome (EDSPD1; <a href="/entry/130080">130080</a>), previously reported by <a href="#3" class="mim-tip-reference" title="George, S. M. C., Vandersteen, A., Nigar, E., Ferguson, D. J. P., Topham, E. J., Pope, F. M. <strong>Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness.</strong> Clin. Exp. Derm. 41: 771-774, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27663155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27663155</a>] [<a href="https://doi.org/10.1111/ced.12911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27663155">George et al. (2016)</a>, <a href="#9" class="mim-tip-reference" title="Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others. <strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong> Am. J. Hum. Genet. 99: 1005-1014, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27745832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27745832</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27745832[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27745832">Kapferer-Seebacher et al. (2016)</a> identified heterozygosity for a c.869A-G transition (c.869A-G, NM_001733.4) in the C1R gene, resulting in an asp290-to-gly substitution (asp272-gly (D272G) in the mature protein) within the C1q binding site. The mutation was not found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. The patient exhibited an acrogeric facial appearance and had chronic hoarseness due to cricoarytenoid fibrosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=27663155+27745832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Cikla, U., Sadighi, A., Bauer, A., Baskaya, M. K.
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<strong>Fatal ruptured blood blister-like aneurysm of middle cerebral artery associated with Ehlers-Danlos syndrome type VIII (periodontitis type).</strong>
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J. Neurol. Surg. Rep. 75: e210-e213, 2014. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25485215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25485215</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25485215[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25485215" 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/10.1055/s-0034-1387185" target="_blank">Full Text</a>]
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Cohen-Haguenauer, O., Serero, S., Tosi, M., Van Cong, N., Stubnicer, A.-C., de Tand, M.-F., Meo, T., Frezal, J.
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<strong>Chromosomal assignment of human C1R, C1S genes on chromosome 12 and C1 inhibitor gene on chromosome 11. (Abstract)</strong>
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7th International Congress of Human Genetics, Berlin 1986. P. 617.
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George, S. M. C., Vandersteen, A., Nigar, E., Ferguson, D. J. P., Topham, E. J., Pope, F. M.
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<strong>Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness.</strong>
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Clin. Exp. Derm. 41: 771-774, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27663155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27663155</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27663155" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/ced.12911" target="_blank">Full Text</a>]
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Hartsfield, J. K., Jr., Kousseff, B. G.
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<strong>Phenotypic overlap of Ehlers-Danlos syndrome types IV and VIII.</strong>
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Am. J. Med. Genet. 37: 465-470, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2260589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2260589</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2260589" 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/ajmg.1320370408" target="_blank">Full Text</a>]
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Journet, A., Tosi, M.
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<strong>Cloning and sequencing of full-length cDNA encoding the precursor of human complement component C1r.</strong>
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Biochem. J. 240: 783-787, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3030286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3030286</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3030286" 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/10.1042/bj2400783" target="_blank">Full Text</a>]
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Kamboh, M. I., Ferrell, R. E.
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<strong>Genetic studies of low abundance human plasma proteins. III. Polymorphism of the C1R subcomponent of the first complement component.</strong>
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Am. J. Hum. Genet. 39: 826-831, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3026176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3026176</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3026176" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kamboh, M. I., Lyons, L. A., Ferrell, R. E.
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<strong>Genetic studies of low-abundance human plasma proteins. XIII. Population genetics of C1R complement subcomponent and description of new variants.</strong>
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Am. J. Hum. Genet. 44: 148-153, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2535773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2535773</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2535773" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kamboh, M. I., Lyons, L., Ferrell, R. E.
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<strong>Genetic studies of low-abundance human plasma proteins. IX. A new allele at the complement subcomponent C1R structural locus.</strong>
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Hum. Genet. 81: 93-94, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3198132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3198132</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3198132" 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/BF00283738" target="_blank">Full Text</a>]
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Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others.
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<strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong>
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Am. J. Hum. Genet. 99: 1005-1014, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27745832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27745832</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27745832[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27745832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
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|
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[<a href="https://doi.org/10.1016/j.ajhg.2016.08.019" 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="10" class="mim-anchor"></a>
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<a id="Kusumoto1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kusumoto, H., Hirosawa, S., Salier, J. P., Hagen, F. S., Kurachi, K.
|
|
<strong>Human genes for complement components C1r and C1s in a close tail-to-tail arrangement.</strong>
|
|
Proc. Nat. Acad. Sci. 85: 7307-7311, 1988.
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|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2459702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2459702</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2459702" 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.85.19.7307" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Leppert1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Leppert, M., Ferrell, R., Kamboh, M. I., Beasley, J., O'Connell, P., Lathrop, M., Lalouel, J. M., White, R.
|
|
<strong>Linkage of the polymorphic protein markers F13B, C1S, C1R, and blood group antigen Kidd in CEPH reference families. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 647 only, 1987.
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Leytus1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Leytus, S. P., Kurachi, K., Sakariassen, K. S., Davie, E. W.
|
|
<strong>Nucleotide sequence of the cDNA coding for human complement C1r.</strong>
|
|
Biochemistry 25: 4855-4863, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3021205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3021205</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3021205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1021/bi00365a020" 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="13" class="mim-anchor"></a>
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<a id="Lyons1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Lyons, L. A., Kamboh, M. I., Ferrell, R. E.
|
|
<strong>Genetic studies of low-abundance human plasma proteins. XI. Linkage analysis and population genetics of the C1S subcomponent of the first complement component.</strong>
|
|
Complement Inflamm. 6: 81-87, 1989.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2541966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2541966</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2541966" 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/10.1159/000463078" 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="Nguyen1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nguyen, V. C., Tosi, M., Gross, M. S., Cohen-Haguenauer, O., Jegou-Foubert, C., de Tand, M. F., Meo, T., Frezal, J.
|
|
<strong>Assignment of the complement serine protease genes C1r and C1s to chromosome 12 region 12p13.</strong>
|
|
Hum. Genet. 78: 363-368, 1988.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2834284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2834284</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2834284" 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/BF00291737" 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="15" class="mim-anchor"></a>
|
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<a id="Rahman2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Rahman, N., Dunstan, M., Teare, M. D., Hanks, S., Douglas, J., Coleman, K., Bottomly, W. E., Campbell, M. E., Berglund, B., Nordenskjold, M., Forssell, B., Burrows, N., Lunt, P., Young, I., Williams, N., Bignell, G. R., Futreal, P. A., Pope, F. M.
|
|
<strong>Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.</strong>
|
|
Am. J. Hum. Genet. 73: 198-204, 2003.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12776252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12776252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12776252[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12776252" 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/10.1086/376416" 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="16" class="mim-anchor"></a>
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<a id="Reinstein2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Reinstein, E., DeLozier, C. D., Simon, Z., Bannykh, S., Rimoin, D. L., Curry, C. J.
|
|
<strong>Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.</strong>
|
|
Europ. J. Hum. Genet. 21: 233-236, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22739343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22739343</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22739343[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22739343" 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/ejhg.2012.132" 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="17" class="mim-anchor"></a>
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<a id="Roychoudhury1988" class="mim-anchor"></a>
|
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<div class="">
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<p class="mim-text-font">
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Roychoudhury, A. K., Nei, M.
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<strong>Human Polymorphic Genes: World Distribution.</strong>
|
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New York: Oxford Univ. Press (pub.) 1988.
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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="18" class="mim-anchor"></a>
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<a id="Stewart1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stewart, R. E., Hollister, D. W., Rimoin, D. L.
|
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<strong>A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontosis.</strong>
|
|
Birth Defects Orig. Art. Ser. XIII(3B): 85-93, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/890102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">890102</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=890102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Tosi1987" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
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Tosi, M., Duponchel, C., Meo, T., Julier, C.
|
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<strong>Complete cDNA sequence of human complement C1s and close physical linkage of the homologous genes C1s and C1r.</strong>
|
|
Biochemistry 26: 8516-8524, 1987.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2831944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2831944</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2831944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1021/bi00400a004" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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Contributors:
|
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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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Marla J. F. O'Neill - updated : 10/29/2016
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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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Carol A. Bocchini : 3/1/2011
|
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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>
|
|
</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 : 07/21/2017
|
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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">
|
|
alopez : 07/20/2017<br>carol : 10/31/2016<br>carol : 10/29/2016<br>carol : 10/29/2016<br>carol : 10/12/2016<br>carol : 03/02/2011<br>carol : 3/1/2011<br>carol : 3/1/2011
|
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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>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 613785
|
|
</span>
|
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</h3>
|
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</div>
|
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|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
COMPLEMENT COMPONENT 1, r SUBCOMPONENT; C1R
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
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<br />
|
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</div>
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<div>
|
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<div >
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
COMPLEMENT COMPONENT C1r
|
|
</span>
|
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</h4>
|
|
</div>
|
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</div>
|
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<div>
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<br />
|
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</div>
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</div>
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<div>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: C1R</em></strong>
|
|
</span>
|
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</p>
|
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</div>
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<div>
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 12p13.31
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 12:7,080,219-7,092,445 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
12p13.31
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Ehlers-Danlos syndrome, periodontal type, 1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
130080
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The complement system is a major mediator of innate immunity. The first enzymatic event in the cascade of the classical pathway of complement is the activation of its first component, C1. C1 is a multimolecular complex consisting of 2 loosely interacting entities: C1q (see 120550), the recognition subunit, and C1r(2)/C1s(2), the catalytic one. C1r(2)/C1s(2) is a tetrameric Ca(2+)-dependent complex of C1r and C1s (120580), 2 serine-proteinase zymogens. C1r acts by transforming the activation signal (the fixation of C1q on activating reagents, e.g., immune complexes) into an enzymic activity (summary by Journet and Tosi, 1986). </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>Leytus et al. (1986) reported the nucleotide sequence for cDNA coding for C1r. Journet and Tosi (1986) cloned and sequenced a full-length cDNA for the C1r precursor, which contains a 17-amino acid leader peptide, followed by a mature 688-amino acid protein. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By means of a cDNA in somatic cell hybrids, Cohen-Haguenauer et al. (1986) assigned the C1R and C1S genes to chromosome 12. Leppert et al. (1987) found a maximum lod score of 5.99 at theta = 0.038 for linkage between C1S and one of the PRP loci (see 168710); the maximum lod score between C1R and another PRP locus was 4.21 at theta = 0.001. Although C1r and C1s are structurally and functionally similar, with a significant degree of sequence homology suggesting origin by gene duplication, cDNA probes for human C1r and C1s do not cross-hybridize even at mild stringency conditions and are therefore gene-specific. Using a panel of human-rodent cell hybrids, Nguyen et al. (1988) independently assigned the C1r and C1s genes to chromosome 12. In situ hybridization confirmed these assignments and localized the genes to 12p13. </p><p>In a study of 5 families heterozygous at both the C1R and the C1S locus, Lyons et al. (1989) found evidence consistent with, but not proving, linkage of the loci; maximum lod score = 1.505 at theta = 0.00. </p><p>By hybridization of C1r and C1s probes to restriction endonuclease fragments of genomic DNA, Tosi et al. (1987) demonstrated close physical linkage of the genes. This finding was consistent with their evolution through tandem gene duplication and was also consistent with the previously observed combined hereditary deficiencies of C1r and C1s (see 216950). Their coordinate expression may depend on the close linkage. The 2 genes lie in a DNA stretch not longer than 50 kb. </p><p>By DNA blotting and sequencing analyses of genomic DNA and of an isolated genomic DNA clone, Kusumoto et al. (1988) showed that the C1r and C1s genes are closely located in a 'tail-to-tail' arrangement at a distance of about 9.5 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kamboh and Ferrell (1986) demonstrated genetic polymorphism of C1R using the high-resolving power of isoelectric focusing in 6M urea followed by immunoblotting. Kamboh et al. (1988) described a new allele by isoelectric focusing and immunoblotting. Using the same methods, Kamboh et al. (1989) described 5 new alleles. </p><p>Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).</p><p><strong><em>Ehlers-Danlos Syndrome, Periodontal Type, 1</em></strong></p><p>
|
|
In affected members of 15 unrelated families with the periodontal type of Ehlers-Danlos syndrome (EDSPD1; 130080), Kapferer-Seebacher et al. (2016) identified heterozygosity for missense or in-frame insertion/deletion mutations in the C1R gene (see, e.g., 613785.0001-613785.0007). The mutations segregated with disease in the families and none of the mutations were found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. The authors stated that the mutations appeared to have gain-of-function effects. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0001 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1</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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C1R, VAL32ASP
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<br />
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SNP: rs1057519025,
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ClinVar: RCV000412647, RCV000755109
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In a large 5-generation Austrian family (family 1) with the periodontal type of Ehlers-Danlos syndrome (EDSPD1; 130080), Kapferer-Seebacher et al. (2016) identified heterozygosity for a c.149_150TC-AT change (c.149_150TC-AT, NM_001733.4) in the C1R gene, resulting in a val50-to-asp substitution (val32-to-asp (V32D) in the mature protein) at an evolutionarily conserved residue within the CUB1 collagen-binding domain. The mutation segregated fully with disease in the family, and was not found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. Western blots of HEK293 cells and supernatants in which V50D had been overexpressed indicated that the abnormal C1R protein was retained in the cell but could undergo autoactivation that might lead to interaction with off-target substrates. In addition, mutation-transfected cells showed an increased proportion of dilated cisternae of the rough endoplasmic reticulum compared to controls. Kapferer-Seebacher et al. (2016) noted that unlike previously reported families with EDSPD, none of the affected individuals in this family exhibited pretibial discoloration. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1</strong>
|
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</span>
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</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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C1R, CYS340PHE
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<br />
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SNP: rs1057518645,
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ClinVar: RCV000258068, RCV000755118
|
|
|
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|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In the proband from a family (family 11) with the periodontal type of Ehlers-Danlos syndrome (EDSPD1; 130080) that was originally reported by Stewart et al. (1977), Kapferer-Seebacher et al. (2016) identified heterozygosity for a c.1073G-T transversion (c.1073G-T, NM_001733.4) in the C1R gene, resulting in a cys358-to-phe substitution (cys340-to-phe (C340F) in the mature protein) within the Sushi CCP1 domain. The mutation was not found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. </p>
|
|
</span>
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</div>
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<div>
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<br />
|
|
</div>
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|
|
</div>
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|
<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
<div>
|
|
<span class="mim-text-font">
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|
|
|
C1R, CYS291TRP
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|
|
<br />
|
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|
|
SNP: rs769707492,
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|
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|
|
gnomAD: rs769707492,
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|
|
|
|
|
ClinVar: RCV000258072, RCV000755116
|
|
|
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|
|
</span>
|
|
</div>
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In the probands from 2 unrelated families (families 8 and 9) with the periodontal type of Ehlers-Danlos syndrome (EDSPD1; 130080), 1 of which was previously reported by Hartsfield and Kousseff (1990), Kapferer-Seebacher et al. (2016) identified heterozygosity for a c.927C-G transversion (c.927C-G, NM_001733.4) in the C1R gene, resulting in a cys309-to-trp substitution (cys291-to-trp (C291W) in the mature protein) within the Sushi CCP1 domain. The mutation segregated with disease in the family for which DNA was available from family members and was not found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. Western blots of HEK293 cells and supernatants in which C309W had been overexpressed indicated that the abnormal C1R protein was retained in the cell but could undergo autoactivation that might lead to interaction with off-target substrates. In addition, mutation-transfected cells showed an increased proportion of dilated cisternae of the rough endoplasmic reticulum compared to controls. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
C1R, ARG283PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs760277934,
|
|
|
|
|
|
gnomAD: rs760277934,
|
|
|
|
|
|
ClinVar: RCV000258069, RCV000755113
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In the proband from a 5-generation Swedish family (family 5) with the periodontal type of Ehlers-Danlos syndrome (EDSPD1; 130080), previously studied by Rahman et al. (2003), Kapferer-Seebacher et al. (2016) identified heterozygosity for a c.902G-C transversion (c.902G-C, NM_001733.4) in the C1R gene, resulting in an arg301-to-pro substitution (arg283-to-pr0 (R301P) in the mature protein) at an evolutionarily conserved residue within the CUB2 domain. The mutation was not found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
C1R, LEU282PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1057515579,
|
|
|
|
|
|
|
|
ClinVar: RCV000258067, RCV000755112
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 7-year-old girl, her father, and paternal grandfather (family 4), who had the periodontal type of Ehlers-Danlos syndrome (EDSPD1; 130080) and were previously studied by Reinstein et al. (2013), Kapferer-Seebacher et al. (2016) identified heterozygosity for a c.899T-C transition (c.899 T-C, NM_001733.4) in the C1R gene, resulting in a leu300-to-pro substitution (leu282-to-pro (L300P) in the mature protein) at an evolutionarily conserved residue within the CUB2 domain. The mutation, which was not found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases, was also not detected in the paternal great-grandfather, who exhibited the dental features of periodontal EDS but no skin or joint findings; Kapferer-Seebacher et al. (2016) concluded that the mutation occurred de novo in the grandfather or was mosaic in the great-grandfather. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
C1R, 917_927del/insGGACA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1057518646,
|
|
|
|
|
|
|
|
ClinVar: RCV000258071, RCV000755115
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 42-year-old woman (family 7) with the periodontal type of Ehlers-Danlos syndrome (EDSPD1; 130080), previously reported by Cikla et al. (2014), Kapferer-Seebacher et al. (2016) identified heterozygosity for an in-frame deletion/insertion mutation (c.917_927delinsGGACA, NM_001733.4) in the C1R gene, predicted to result in an Ile306_Cys309del/insArgArg change (Ile288_Cys291del/insArgArg in the mature protein) within the Sushi CCP1 domain. The mutation was not found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. The proband died of cerebral hemorrhage from an aneurysm of the left middle cerebral artery. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
C1R, ASP272GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1057518643,
|
|
|
|
|
|
|
|
ClinVar: RCV000258064, RCV000755110
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 33-year-old woman (family 2) with the periodontal type of Ehlers-Danlos syndrome (EDSPD1; 130080), previously reported by George et al. (2016), Kapferer-Seebacher et al. (2016) identified heterozygosity for a c.869A-G transition (c.869A-G, NM_001733.4) in the C1R gene, resulting in an asp290-to-gly substitution (asp272-gly (D272G) in the mature protein) within the C1q binding site. The mutation was not found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. The patient exhibited an acrogeric facial appearance and had chronic hoarseness due to cricoarytenoid fibrosis. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cikla, U., Sadighi, A., Bauer, A., Baskaya, M. K.
|
|
<strong>Fatal ruptured blood blister-like aneurysm of middle cerebral artery associated with Ehlers-Danlos syndrome type VIII (periodontitis type).</strong>
|
|
J. Neurol. Surg. Rep. 75: e210-e213, 2014. Note: Electronic Article.
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|
[PubMed: 25485215]
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[Full Text: https://doi.org/10.1055/s-0034-1387185]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Cohen-Haguenauer, O., Serero, S., Tosi, M., Van Cong, N., Stubnicer, A.-C., de Tand, M.-F., Meo, T., Frezal, J.
|
|
<strong>Chromosomal assignment of human C1R, C1S genes on chromosome 12 and C1 inhibitor gene on chromosome 11. (Abstract)</strong>
|
|
7th International Congress of Human Genetics, Berlin 1986. P. 617.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
George, S. M. C., Vandersteen, A., Nigar, E., Ferguson, D. J. P., Topham, E. J., Pope, F. M.
|
|
<strong>Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness.</strong>
|
|
Clin. Exp. Derm. 41: 771-774, 2016.
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|
[PubMed: 27663155]
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[Full Text: https://doi.org/10.1111/ced.12911]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Hartsfield, J. K., Jr., Kousseff, B. G.
|
|
<strong>Phenotypic overlap of Ehlers-Danlos syndrome types IV and VIII.</strong>
|
|
Am. J. Med. Genet. 37: 465-470, 1990.
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[PubMed: 2260589]
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|
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[Full Text: https://doi.org/10.1002/ajmg.1320370408]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Journet, A., Tosi, M.
|
|
<strong>Cloning and sequencing of full-length cDNA encoding the precursor of human complement component C1r.</strong>
|
|
Biochem. J. 240: 783-787, 1986.
|
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|
[PubMed: 3030286]
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[Full Text: https://doi.org/10.1042/bj2400783]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kamboh, M. I., Ferrell, R. E.
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Stewart, R. E., Hollister, D. W., Rimoin, D. L.
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