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Entry
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- *120131 - COLLAGEN, TYPE IV, ALPHA-4; COL4A4
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- OMIM
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<p>
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<span class="h4">*120131</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/120131">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000081052;t=ENST00000396625" 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=1286" 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=120131" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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<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=ENSG00000081052;t=ENST00000396625" 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_000092,XM_005246281,XM_005246282,XM_006712246,XM_011510557,XM_011510558,XM_011510559,XM_011510560,XM_011510561,XM_011510562,XM_011510565,XM_011510566,XM_011510567,XM_011510568,XM_011510569,XM_011510570,XM_011510572,XM_017003297,XM_047443228,XM_047443241,XM_047443242,XM_047443245,XM_047443246,XM_047443248,XM_047443249,XM_047443250,XR_001738602,XR_007069255,XR_922837" 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_000092" 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=120131" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=00360&isoform_id=00360_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/COL4A4" 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/457161,574806,2934703,4160232,62822121,62988673,116256356,119591251,119591252,119591253,259016360,530369774,530369776,578803613,767916539,767916541,767916546,767916548,767916551,767916553,767916561,767916566,767916568,767916570,767916572,767916574,767916578,1034611412,2217325439,2217325445,2217325448,2217325456,2217325459,2217325462,2217325464,2217325471,2462569905,2462569907,2462569909,2462569911,2462569913,2462569915,2462569917,2462569920,2462569924,2462569926,2462569928,2462569930,2462569932,2462569934,2462569936,2462569938,2462569940,2462569942,2462569944,2462569946,2462569948,2462569950,2462569952" 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/P53420" 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=1286" 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=ENSG00000081052;t=ENST00000396625" 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=COL4A4" 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=COL4A4" 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+1286" 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/COL4A4" 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:1286" 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/1286" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr2&hgg_gene=ENST00000396625.5&hgg_start=226967360&hgg_end=227164488&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:2206" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=120131[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=120131[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/COL4A4/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000081052" 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=COL4A4" 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=COL4A4" 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=COL4A4" 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=COL4A4&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/PA26721" 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:2206" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0000299.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:104687" 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/COL4A4#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:104687" 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/1286/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002618/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=1286" 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-101001-1" 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">
|
|
<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:1286" 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=COL4A4&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 236418003<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
120131
|
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</span>
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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COLLAGEN, TYPE IV, ALPHA-4; COL4A4
|
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
COLLAGEN OF BASEMENT MEMBRANE, ALPHA-4 CHAIN
|
|
</span>
|
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</h4>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=COL4A4" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">COL4A4</a></em></strong>
|
|
</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/2/1070?start=-3&limit=10&highlight=1070">2q36.3</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:226967360-227164488&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">2:226,967,360-227,164,488</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
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|
|
|
|
</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=203780,141200" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/1070?start=-3&limit=10&highlight=1070">
|
|
2q36.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Alport syndrome 2, autosomal recessive
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/203780"> 203780 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
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|
|
|
</tr>
|
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|
|
|
|
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|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Hematuria, familial benign, 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/141200"> 141200 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
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<p>Type IV collagen is found only in basement membranes, where it is the major structural component. COL4A4 is 1 of 6 alpha chains that form the heterotrimeric type IV collagen molecules (<a href="#9" class="mim-tip-reference" title="Mariyama, M., Leinonen, A., Mochizuki, T., Tryggvason, K., Reeders, S. T. <strong>Complete primary structure of the human alpha-3(IV) collagen chain: coexpression of the alpha-3(IV) and alpha-4(IV) collagen chains in human tissues.</strong> J. Biol. Chem. 269: 23013-23017, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8083201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8083201</a>]" pmid="8083201">Mariyama et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8083201" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Butkowski, R. J., Langeveld, J. P. M., Wieslander, J., Hamilton, J., Hudson, B. G. <strong>Localization of the Goodpasture epitope to a novel chain of basement membrane collagen.</strong> J. Biol. Chem. 262: 7874-7877, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2438283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2438283</a>]" pmid="2438283">Butkowski et al. (1987)</a> and <a href="#14" class="mim-tip-reference" title="Saus, J., Wieslander, J., Langeveld, J. P. M., Quinones, S., Hudson, B. G. <strong>Identification of the Goodpasture antigen as the alpha-3(IV) chain of collagen IV.</strong> J. Biol. Chem. 263: 13374-13380, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3417661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3417661</a>]" pmid="3417661">Saus et al. (1988)</a> identified 2 type IV collagen alpha chains distinct from the alpha-1 (COL1A1; <a href="/entry/120130">120130</a>) and alpha-2 (<a href="/entry/120090">120090</a>) chains. These are designated alpha-3 (<a href="/entry/120070">120070</a>) and alpha-4. <a href="#4" class="mim-tip-reference" title="Gunwar, S., Saus, J., Noelken, M. E., Hudson, B. G. <strong>Glomerular basement membrane: identification of a fourth chain, alpha-4, of type IV collagen.</strong> J. Biol. Chem. 265: 5466-5469, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2318822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2318822</a>]" pmid="2318822">Gunwar et al. (1990)</a> characterized further the alpha-4 chain of type IV collagen. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2438283+2318822+3417661" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Mariyama, M., Zheng, K., Yang-Feng, T. L., Reeders, S. T. <strong>Colocalization of the genes for the alpha-3(IV) and alpha-4(IV) chains of type IV collagen to chromosome 2 bands q35-q37.</strong> Genomics 13: 809-813, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1639407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1639407</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90157-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1639407">Mariyama et al. (1992)</a> isolated partial cDNAs for the COL4A4 gene. On the basis of comparisons of the deduced peptide sequences of all 5 chains of type IV collagen, <a href="#10" class="mim-tip-reference" title="Mariyama, M., Zheng, K., Yang-Feng, T. L., Reeders, S. T. <strong>Colocalization of the genes for the alpha-3(IV) and alpha-4(IV) chains of type IV collagen to chromosome 2 bands q35-q37.</strong> Genomics 13: 809-813, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1639407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1639407</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90157-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1639407">Mariyama et al. (1992)</a> concluded that they can be divided into 2 families: those that resemble alpha-1 (COL4A1, COL4A3, and COL4A5), and those that resemble alpha-2 (COL4A2 and COL4A4). The COL4A1 and COL4A2 chains are commonly found together in basement membrane and form heterotrimers. Whereas alpha-1(IV) and alpha-2(IV) are found in all basement membranes studied, alpha-3(IV) and alpha-4(IV) are found only in a subset of basement membranes. They are always found together, however. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1639407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Leinonen, A., Mariyama, M., Mochizuki, T., Tryggvason, K., Reeders, S. T. <strong>Complete primary structure of the human type IV collagen alpha-4(IV) chain: comparison with structure and expression of the other alpha(IV) chains.</strong> J. Biol. Chem. 269: 26172-26177, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7523402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7523402</a>]" pmid="7523402">Leinonen et al. (1994)</a> determined the entire sequence of the COL4A4 gene. The complete translation product has 1,690 amino acid residues and the processed polypeptide contains 1,652 residues. There is a 38-residue putative signal peptide, a 1,421-residue collagenous domain starting with a 23-residue noncollagenous sequence, and a 231-residue NC1 domain. Differences and similarities with the other component chains of type IV collagen were detailed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7523402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using Northern blot analysis, <a href="#9" class="mim-tip-reference" title="Mariyama, M., Leinonen, A., Mochizuki, T., Tryggvason, K., Reeders, S. T. <strong>Complete primary structure of the human alpha-3(IV) collagen chain: coexpression of the alpha-3(IV) and alpha-4(IV) collagen chains in human tissues.</strong> J. Biol. Chem. 269: 23013-23017, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8083201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8083201</a>]" pmid="8083201">Mariyama et al. (1994)</a> found high expression of a 10-kb COL4A44 transcript in adult human kidney, skeletal muscle, and lung and in fetal kidney and lung. A 7.5-kb transcript was also detected in fetal kidney and lung, with weaker expression in fetal heart. Expression of COL4A4 largely overlapped that of COL4A3, suggesting that expression of the 2 transcripts may be coregulated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8083201" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Momota, R., Sugimoto, M., Oohashi, T., Kigasawa, K., Yoshioka, H., Ninomiya, Y. <strong>Two genes, COL4A3 and COL4A4 coding for the human alpha-3(IV) and alpha-4(IV) collagen chains are arranged head-to-head on chromosome 2q36.</strong> FEBS Lett. 424: 11-16, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9537506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9537506</a>] [<a href="https://doi.org/10.1016/s0014-5793(98)00128-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9537506">Momota et al. (1998)</a> identified 2 alternative first exons, exons 1 and 1-prime, used by COL4A4 transcripts. Both exons are noncoding. Southern blot analysis of 5-prime RACE products amplified from human tissues and cell lines showed that exon 1 was expressed predominantly in epithelial cells, while exon 1-prime was ubiquitously expressed at lower levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9537506" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using cDNA probes generated from normal dog kidney, <a href="#15" class="mim-tip-reference" title="Thorner, P. S., Zheng, K., Kalluri, R., Jacobs, R., Hudson, B. G. <strong>Coordinate gene expression of the alpha-3, alpha-4, and alpha-5 chains if collagen type IV.</strong> J. Biol. Chem. 271: 13821-13828, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8662866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8662866</a>] [<a href="https://doi.org/10.1074/jbc.271.23.13821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8662866">Thorner et al. (1996)</a> compared the nucleotide and deduced amino acid sequences of normal canine and human alpha-1 type IV collagen to the alpha-4 type IV and alpha-6 type IV (<a href="/entry/303631">303631</a>) chains. They found that the canine sequences are over 88% identical at the DNA level and over 92% identical at the protein level to the respective human alpha chains. The positions of the cysteine residues are conserved between all canine alpha type IV chains and between each canine and human alpha IV chain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8662866" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#13" class="mim-tip-reference" title="Momota, R., Sugimoto, M., Oohashi, T., Kigasawa, K., Yoshioka, H., Ninomiya, Y. <strong>Two genes, COL4A3 and COL4A4 coding for the human alpha-3(IV) and alpha-4(IV) collagen chains are arranged head-to-head on chromosome 2q36.</strong> FEBS Lett. 424: 11-16, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9537506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9537506</a>] [<a href="https://doi.org/10.1016/s0014-5793(98)00128-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9537506">Momota et al. (1998)</a> determined that the COL4A4 gene contains alternative noncoding first exons, designated exons 1 and 1-prime. Exon 2 contains the translation start site. The COL4A3 and COL4A4 genes are on opposite strands of chromosome 2 and are transcribed in opposite directions. The first exon of COL4A3 is separated from exons 1 and 1-prime of COL4A4 by 372 and 5 bp, respectively. The promoter region, which is shared by both genes, is composed of dense CpG dinucleotides, GC boxes, CTC boxes, and a CCAAT box, but not a TATA box. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9537506" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Boye, E., Mollet, G., Forestier, L., Cohen-Solal, L., Heidet, L., Cochat, P., Grunfeld, J.-P., Palcoux, J.-B., Gubler, M.-C., Antignac, C. <strong>Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.</strong> Am. J. Hum. Genet. 63: 1329-1340, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792860</a>] [<a href="https://doi.org/10.1086/302106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792860">Boye et al. (1998)</a> determined that the COL4A4 gene contains 48 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792860" 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 analysis of somatic cell hybrids and by in situ hybridization, <a href="#10" class="mim-tip-reference" title="Mariyama, M., Zheng, K., Yang-Feng, T. L., Reeders, S. T. <strong>Colocalization of the genes for the alpha-3(IV) and alpha-4(IV) chains of type IV collagen to chromosome 2 bands q35-q37.</strong> Genomics 13: 809-813, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1639407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1639407</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90157-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1639407">Mariyama et al. (1992)</a> mapped the COL4A3 and COL4A4 genes to the same region, 2q35-q37. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1639407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Mariyama, M., Zheng, K., Yang-Feng, T. L., Reeders, S. T. <strong>Colocalization of the genes for the alpha-3(IV) and alpha-4(IV) chains of type IV collagen to chromosome 2 bands q35-q37.</strong> Genomics 13: 809-813, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1639407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1639407</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90157-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1639407">Mariyama et al. (1992)</a> stated that COL4A1 and COL4A2 map to 13q34 and are transcribed from opposite DNA strands using a common bidirectional promoter that allows coordinate regulation of the 2 chains. The COL4A3 and COL4A4 genes are arranged in a head-to-head manner on 2q. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1639407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Kamagata, Y., Mattei, M.-G., Ninomiya, Y. <strong>Isolation and sequencing of cDNAs and genomic DNAs encoding the alpha 4 chain of basement membrane collagen type IV and assignment of the gene to the distal long arm of human chromosome 2.</strong> J. Biol. Chem. 267: 23753-23758, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1429714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1429714</a>]" pmid="1429714">Kamagata et al. (1992)</a> compared the COL4A4 chain with the other 4 chains of type IV collagen. Using a human genomic DNA fragment for in situ hybridization, they mapped the COL4A4 gene to 2q35-q37.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1429714" 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>Of 7 families with presumed autosomal recessive Alport syndrome (ATS2; <a href="/entry/203780">203780</a>), <a href="#12" class="mim-tip-reference" title="Mochizuki, T., Lemmink, H. H., Mariyama, M., Antignac, C., Gubler, M.-C., Pirson, Y., Verellen-Dumoulin, C., Chan, B., Schroder, C. H., Smeets, H. J., Reeders, S. T. <strong>Identification of mutations in the alpha-3(IV) and alpha-4(IV) collagen genes in autosomal recessive Alport syndrome.</strong> Nature Genet. 8: 77-81, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987396</a>] [<a href="https://doi.org/10.1038/ng0994-77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987396">Mochizuki et al. (1994)</a> demonstrated COL4A4 mutations in 2 (<a href="#0001">120131.0001</a>-<a href="#0002">120131.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Lemmink, H. H., Schroder, C. H., Monnens, L. A. H., Smeets, H. J. M. <strong>The clinical spectrum of type IV collagen mutations.</strong> Hum. Mutat. 9: 477-499, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9195222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9195222</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9195222">Lemmink et al. (1997)</a> reviewed the clinical spectrum associated with mutations of the several chains of type IV collagen. They listed the 3 mutations that had been identified in the COL4A4 gene: 1 in familial benign hematuria (<a href="#0003">120131.0003</a>) and 2 in Alport syndrome with development of renal failure at 14 and 18 years of age, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9195222" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Boye, E., Mollet, G., Forestier, L., Cohen-Solal, L., Heidet, L., Cochat, P., Grunfeld, J.-P., Palcoux, J.-B., Gubler, M.-C., Antignac, C. <strong>Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.</strong> Am. J. Hum. Genet. 63: 1329-1340, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792860</a>] [<a href="https://doi.org/10.1086/302106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792860">Boye et al. (1998)</a> characterized the 48 exons of the COL4A4 gene and detected 10 novel mutations in 8 patients diagnosed with autosomal recessive Alport syndrome (see, e.g., <a href="#0004">120131.0004</a>-<a href="#0006">120131.0006</a>). Furthermore, they identified a glycine-to-alanine substitution in the collagenous domain that is apparently silent in heterozygous carriers, in 11.5% of all control individuals, and in 1 control individual homozygous for this glycine substitution. There had been no previous finding of a glycine substitution that was not associated with any obvious phenotype in homozygous individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792860" 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 affected members of 4 unrelated families with benign familial hematuria, <a href="#1" class="mim-tip-reference" title="Badenas, C., Praga, M., Tazon, B., Heidet, L., Arrondel, C., Armengol, A., Andres, A., Morales. E., Camacho, J. A., Lens, X., Davila, S., Mila, M., Antignac, C., Darnell, A., Torra, R. <strong>Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria.</strong> J. Am. Soc. Nephrol. 13: 1248-1254, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11961012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11961012</a>] [<a href="https://doi.org/10.1681/ASN.V1351248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11961012">Badenas et al. (2002)</a> identified 4 different heterozygous mutations in the COL4A4 gene (see, e.g., <a href="#0007">120131.0007</a> and <a href="#0008">120131.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11961012" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Evidence of Digenic Inheritance in Alport Syndrome</em></strong></p><p>
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Using massively parallel sequencing, <a href="#11" class="mim-tip-reference" title="Mencarelli, M. A., Heidet, L., Storey, H., van Geel, M., Knebelmann, B., Fallerini, C., Miglietti, N., Antonucci, M. F., Cetta, F., Sayer, J. A., van den Wijngaard, A., Yau, S., Mari, F., Bruttini, M., Ariani, F., Dahan, K., Smeets, B., Antignac, C., Flinter, F., Renieri, A. <strong>Evidence of digenic inheritance in Alport syndrome.</strong> J. Med. Genet. 52: 163-174, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25575550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25575550</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102822" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25575550">Mencarelli et al. (2015)</a> identified 11 patients with Alport syndrome who had pathogenic mutations in 2 of the 3 collagen IV genes. Seven patients had a combination of mutations in COL4A3 (<a href="/entry/120070">120070</a>) and COL4A4, whereas 4 patients had 1 or 2 mutations in COL4A4 associated with mutation in COL4A5 (<a href="/entry/303630">303630</a>). In no case were there simultaneous COL4A3 and COL4A5 mutations. Altogether, 23 unique mutations were found, including 7 in COL4A3, 12 in COL4A4, and 4 in COL4A5. The mutations involved all domains of the collagen molecules, although the majority of missense mutations (11 of 13) affected the triple-helical collagenous domain, and 11 missense mutations substituted a critical glycine residue in this domain. Thirteen mutations had been previously reported and 10 were novel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25575550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the COL4A4 gene and keratoconus, see KTCN1 (<a href="/entry/148300">148300</a>).</p>
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<p>Canine X-linked hereditary nephritis is an animal model for human X-linked hereditary nephritis (Alport syndrome) (<a href="/entry/301050">301050</a>) characterized by the presence of a premature stop codon in the alpha-5 chain (<a href="/entry/303630">303630</a>) of collagen type IV. <a href="#15" class="mim-tip-reference" title="Thorner, P. S., Zheng, K., Kalluri, R., Jacobs, R., Hudson, B. G. <strong>Coordinate gene expression of the alpha-3, alpha-4, and alpha-5 chains if collagen type IV.</strong> J. Biol. Chem. 271: 13821-13828, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8662866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8662866</a>] [<a href="https://doi.org/10.1074/jbc.271.23.13821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8662866">Thorner et al. (1996)</a> examined expression of the canine collagen type IV genes in the kidney. They detected alpha-3, alpha-4, and alpha-5 chains in the noncollagenous domain of type IV collagen isolated from normal dog glomeruli but not in affected dog glomeruli. In addition to a significantly reduced level of COL4A5 gene expression (approximately 10% of normal), expression of the COL4A3 and COL4A4 genes was also decreased to 14 to 23% and 11 to 17%, respectively. These findings suggested to <a href="#15" class="mim-tip-reference" title="Thorner, P. S., Zheng, K., Kalluri, R., Jacobs, R., Hudson, B. G. <strong>Coordinate gene expression of the alpha-3, alpha-4, and alpha-5 chains if collagen type IV.</strong> J. Biol. Chem. 271: 13821-13828, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8662866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8662866</a>] [<a href="https://doi.org/10.1074/jbc.271.23.13821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8662866">Thorner et al. (1996)</a> a mechanism that coordinates the expression of these 3 basement membrane proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8662866" 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>See <a href="/entry/120070">120070</a> for the description of a mouse model of human Alport syndrome.</p>
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<p>In 2 Algerian sisters (family BE) with autosomal recessive Alport syndrome (ATS2; <a href="/entry/203780">203780</a>), <a href="#12" class="mim-tip-reference" title="Mochizuki, T., Lemmink, H. H., Mariyama, M., Antignac, C., Gubler, M.-C., Pirson, Y., Verellen-Dumoulin, C., Chan, B., Schroder, C. H., Smeets, H. J., Reeders, S. T. <strong>Identification of mutations in the alpha-3(IV) and alpha-4(IV) collagen genes in autosomal recessive Alport syndrome.</strong> Nature Genet. 8: 77-81, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987396</a>] [<a href="https://doi.org/10.1038/ng0994-77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987396">Mochizuki et al. (1994)</a> identified homozygosity for a G-to-A transition in a portion of the COL4A4 gene representing a segment of the 3-prime third of the alpha-4(IV) collagenous domain. The mutation resulted in a substitution of a serine residue for a glycine residue that is part of the Gly-X-Y collagenous repeat. The authors considered the variant pathogenic for several reasons. The asymptomatic consanguineous parents and an unaffected brother were heterozygous for the variant. The mutant allele was not observed in 32 unrelated persons from the same North African population. Similar glycine-to-serine substitutions had been observed in the fibrillar collagens encoded by the COL1A1 and COL1A2 genes in osteogenesis imperfecta. Moreover, a serine-for-glycine substitution had been observed in the alpha-5(IV) chain in a patient with X-linked Alport syndrome (<a href="/entry/301050">301050</a>). The authors noted that the glycine-to-serine mutations in both the COL4A4 and COL4A5 genes are recessive, whereas similar mutations in fibrillar collagens are dominant. In the Algerian family, end-stage renal disease developed in the older sister at the age of 14, but no deafness or ocular abnormalities had been observed. The other sister was noted at age 11 to have the nephrotic syndrome without a decrease in renal function; likewise, no deafness or ocular abnormalities were found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987396" 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 review of mutations in the type IV collagen genes, <a href="#8" class="mim-tip-reference" title="Lemmink, H. H., Schroder, C. H., Monnens, L. A. H., Smeets, H. J. M. <strong>The clinical spectrum of type IV collagen mutations.</strong> Hum. Mutat. 9: 477-499, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9195222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9195222</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9195222">Lemmink et al. (1997)</a> stated that this mutation was a G-to-A transition at nucleotide 3809, resulting in a gly1201-to-ser (G1201S) amino acid substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9195222" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000018948 OR RCV002496408 OR RCV002513114" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018948, RCV002496408, RCV002513114" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018948...</a>
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<p>In an Italian girl (family GA) with autosomal recessive Alport syndrome (ATS2; <a href="/entry/203780">203780</a>), <a href="#12" class="mim-tip-reference" title="Mochizuki, T., Lemmink, H. H., Mariyama, M., Antignac, C., Gubler, M.-C., Pirson, Y., Verellen-Dumoulin, C., Chan, B., Schroder, C. H., Smeets, H. J., Reeders, S. T. <strong>Identification of mutations in the alpha-3(IV) and alpha-4(IV) collagen genes in autosomal recessive Alport syndrome.</strong> Nature Genet. 8: 77-81, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987396</a>] [<a href="https://doi.org/10.1038/ng0994-77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987396">Mochizuki et al. (1994)</a> observed a homozygous substitution of A for C in the collagenous domain of alpha-4(IV). The mutation replaced a serine codon with a stop codon, causing premature chain termination and shortening of the chain by 453 amino acids. The parents were not known to be consanguineous but shared the same surname and originated from the same village in Italy. Two of the proband's sisters had died at ages 8 and 12 years, apparently of Alport syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987396" 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 review of mutations in the type IV collagen genes, <a href="#8" class="mim-tip-reference" title="Lemmink, H. H., Schroder, C. H., Monnens, L. A. H., Smeets, H. J. M. <strong>The clinical spectrum of type IV collagen mutations.</strong> Hum. Mutat. 9: 477-499, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9195222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9195222</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9195222">Lemmink et al. (1997)</a> indicated that this homozygous mutation was a C-to-A transversion at nucleotide 3921, resulting in a ser1238-to-ter (S1238X) nonsense mutation. Renal failure occurred at age 18 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9195222" 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">rs121912860 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912860;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=rs121912860" 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=rs121912860" 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=RCV000018949 OR RCV000666567 OR RCV000710841 OR RCV004576907 OR RCV005003386" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018949, RCV000666567, RCV000710841, RCV004576907, RCV005003386" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018949...</a>
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<p>Benign familial hematuria (BFH1; <a href="/entry/141200">141200</a>) is characterized by autosomal dominant inheritance, thinning of the glomerular basement membrane (GBM), and normal renal function. It is frequent in patients with persistent microscopic hematuria, but cannot be clinically differentiated from the initial stages of Alport syndrome (see <a href="/entry/203780">203780</a>), a severe GBM disorder which progresses to renal failure. <a href="#7" class="mim-tip-reference" title="Lemmink, H. H., Nillesen, W. N., Mochizuki, T., Schroder, C. H., Brunner, H. G., van Oost, B. A., Monnens, L. A. H., Smeets, H. J. M. <strong>Benign familial hematuria due to mutation of the type IV collagen alpha-4 gene.</strong> J. Clin. Invest. 98: 1114-1118, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8787673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8787673</a>] [<a href="https://doi.org/10.1172/JCI118893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8787673">Lemmink et al. (1996)</a> demonstrated linkage of BFH with the COL4A3 and COL4A4 genes at 2q35-q37 and went on to demonstrate a GGG-to-GAG transition in codon 897 of COL4A4 resulting in substitution of a glutamic acid residue for glycine. The G-to-A mutation in this family introduced a novel site for the restriction enzyme AluI, by which the members of the family were screened. All affected members of the family in 3 generations were heterozygous. The index patient, a member of the third generation, presented with hematuria at the age of 5 years. Family history was negative for renal failure and deafness. Electron microscopy of a renal biopsy specimen showed regions with malformations of the GBM typical for Alport syndrome and regions that were thin. Microscopic hematuria was present in many relatives, including the 75-year-old paternal grandfather who had a normal serum creatinine concentration. The family was complicated by the fact that the mother of the index case also had microscopic hematuria as did many of her relatives. She did not carry the gly897-to-glu mutation nor was another mutation identified. The index patient, 16 years old at the time of the report, had developed proteinuria and may have inherited a COL4A4 gene mutation from both parents. <a href="#7" class="mim-tip-reference" title="Lemmink, H. H., Nillesen, W. N., Mochizuki, T., Schroder, C. H., Brunner, H. G., van Oost, B. A., Monnens, L. A. H., Smeets, H. J. M. <strong>Benign familial hematuria due to mutation of the type IV collagen alpha-4 gene.</strong> J. Clin. Invest. 98: 1114-1118, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8787673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8787673</a>] [<a href="https://doi.org/10.1172/JCI118893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8787673">Lemmink et al. (1996)</a> speculated that this might account for the histologic changes in the GBM suggesting Alport syndrome. Homozygous mutations in COL4A3 and COL4A4 have been identified in autosomal recessive Alport syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8787673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121912861 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912861;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/rs121912861?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=rs121912861" 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=rs121912861" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a family with autosomal recessive Alport syndrome (ALS2; <a href="/entry/203780">203780</a>), <a href="#2" class="mim-tip-reference" title="Boye, E., Mollet, G., Forestier, L., Cohen-Solal, L., Heidet, L., Cochat, P., Grunfeld, J.-P., Palcoux, J.-B., Gubler, M.-C., Antignac, C. <strong>Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.</strong> Am. J. Hum. Genet. 63: 1329-1340, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792860</a>] [<a href="https://doi.org/10.1086/302106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792860">Boye et al. (1998)</a> found that affected individuals were compound heterozygotes for 2 mutations in the COL4A4 gene: a C-to-T transition at nucleotide 4337 in exon 44, resulting in an arg1377-to-ter (R1377X) nonsense mutation; and a C-to-A transversion at nucleotide 5131 resulting in a cys1641-to-ter (C1641X; <a href="#0005">120131.0005</a>) nonsense mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792860" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912862 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912862;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=rs121912862" 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=rs121912862" 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=RCV000018951 OR RCV002514112" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018951, RCV002514112" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018951...</a>
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<p>For discussion of the 513C-A transversion in the COL4A4 gene, resulting in a cys164-to-ter (C164X) substitution, that was found in compound heterozygous state in affected members of a family with autosomal recessive Alport syndrome (ATS2; <a href="/entry/203780">203780</a>) by <a href="#2" class="mim-tip-reference" title="Boye, E., Mollet, G., Forestier, L., Cohen-Solal, L., Heidet, L., Cochat, P., Grunfeld, J.-P., Palcoux, J.-B., Gubler, M.-C., Antignac, C. <strong>Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.</strong> Am. J. Hum. Genet. 63: 1329-1340, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792860</a>] [<a href="https://doi.org/10.1086/302106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792860">Boye et al. (1998)</a>, see <a href="#0004">120131.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792860" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121912863 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912863;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/rs121912863?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=rs121912863" 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=rs121912863" 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=RCV000018952 OR RCV000825912 OR RCV001140736 OR RCV001245590 OR RCV002293986 OR RCV004018643 OR RCV004737159 OR RCV005025070" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018952, RCV000825912, RCV001140736, RCV001245590, RCV002293986, RCV004018643, RCV004737159, RCV005025070" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018952...</a>
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<p><a href="#2" class="mim-tip-reference" title="Boye, E., Mollet, G., Forestier, L., Cohen-Solal, L., Heidet, L., Cochat, P., Grunfeld, J.-P., Palcoux, J.-B., Gubler, M.-C., Antignac, C. <strong>Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.</strong> Am. J. Hum. Genet. 63: 1329-1340, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792860</a>] [<a href="https://doi.org/10.1086/302106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792860">Boye et al. (1998)</a> found that one of the alleles of the COL4A4 gene in a patient with autosomal recessive Alport syndrome (ATS2; <a href="/entry/203780">203780</a>) carried a C-to-T transition at nucleotide 4923 in exon 47, resulting in a pro1572-to-leu (P1572L) substitution. The change was not found in any of 48 control individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792860" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 HEMATURIA, BENIGN FAMILIAL, 1</strong>
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COL4A4, 1-BP INS, 3222A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1559493506 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1559493506;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=rs1559493506" 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=rs1559493506" 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=RCV004576908" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004576908" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004576908</a>
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<p>In affected members of a family (HFB-7) with benign familial hematuria (BFH1; <a href="/entry/141200">141200</a>), <a href="#1" class="mim-tip-reference" title="Badenas, C., Praga, M., Tazon, B., Heidet, L., Arrondel, C., Armengol, A., Andres, A., Morales. E., Camacho, J. A., Lens, X., Davila, S., Mila, M., Antignac, C., Darnell, A., Torra, R. <strong>Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria.</strong> J. Am. Soc. Nephrol. 13: 1248-1254, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11961012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11961012</a>] [<a href="https://doi.org/10.1681/ASN.V1351248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11961012">Badenas et al. (2002)</a> identified a heterozygous 1-bp insertion (3222insA) in exon 35 of the COL4A4 gene, predicted to result in a frameshift and premature termination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11961012" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 HEMATURIA, BENIGN FAMILIAL, 1</strong>
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COL4A4, GLY960ARG
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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> rs769783985 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs769783985;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/rs769783985?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=rs769783985" 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=rs769783985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004576909" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004576909" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004576909</a>
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<p>In affected members of a family (HFB-9) with benign familial hematuria (BFH1; <a href="/entry/141200">141200</a>), <a href="#1" class="mim-tip-reference" title="Badenas, C., Praga, M., Tazon, B., Heidet, L., Arrondel, C., Armengol, A., Andres, A., Morales. E., Camacho, J. A., Lens, X., Davila, S., Mila, M., Antignac, C., Darnell, A., Torra, R. <strong>Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria.</strong> J. Am. Soc. Nephrol. 13: 1248-1254, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11961012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11961012</a>] [<a href="https://doi.org/10.1681/ASN.V1351248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11961012">Badenas et al. (2002)</a> identified a heterozygous mutation in exon 32 of the COL4A4 gene, resulting in a gly960-to-arg (G960R) substitution. The mutation was not found in 200 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11961012" 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 id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Badenas2002" class="mim-anchor"></a>
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Badenas, C., Praga, M., Tazon, B., Heidet, L., Arrondel, C., Armengol, A., Andres, A., Morales. E., Camacho, J. A., Lens, X., Davila, S., Mila, M., Antignac, C., Darnell, A., Torra, R.
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<strong>Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria.</strong>
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J. Am. Soc. Nephrol. 13: 1248-1254, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11961012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11961012</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11961012" 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/10.1681/ASN.V1351248" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Boye1998" class="mim-anchor"></a>
|
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Boye, E., Mollet, G., Forestier, L., Cohen-Solal, L., Heidet, L., Cochat, P., Grunfeld, J.-P., Palcoux, J.-B., Gubler, M.-C., Antignac, C.
|
|
<strong>Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.</strong>
|
|
Am. J. Hum. Genet. 63: 1329-1340, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792860</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792860" 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/10.1086/302106" target="_blank">Full Text</a>]
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</li>
|
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|
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<a id="Butkowski1987" class="mim-anchor"></a>
|
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|
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|
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Butkowski, R. J., Langeveld, J. P. M., Wieslander, J., Hamilton, J., Hudson, B. G.
|
|
<strong>Localization of the Goodpasture epitope to a novel chain of basement membrane collagen.</strong>
|
|
J. Biol. Chem. 262: 7874-7877, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2438283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2438283</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2438283" 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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</li>
|
|
|
|
<li>
|
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<a id="Gunwar1990" class="mim-anchor"></a>
|
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|
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<p class="mim-text-font">
|
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Gunwar, S., Saus, J., Noelken, M. E., Hudson, B. G.
|
|
<strong>Glomerular basement membrane: identification of a fourth chain, alpha-4, of type IV collagen.</strong>
|
|
J. Biol. Chem. 265: 5466-5469, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2318822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2318822</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2318822" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</li>
|
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|
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<a id="Kamagata1992" class="mim-anchor"></a>
|
|
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|
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|
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Kamagata, Y., Mattei, M.-G., Ninomiya, Y.
|
|
<strong>Isolation and sequencing of cDNAs and genomic DNAs encoding the alpha 4 chain of basement membrane collagen type IV and assignment of the gene to the distal long arm of human chromosome 2.</strong>
|
|
J. Biol. Chem. 267: 23753-23758, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1429714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1429714</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1429714" 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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|
|
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|
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|
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|
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|
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Leinonen, A., Mariyama, M., Mochizuki, T., Tryggvason, K., Reeders, S. T.
|
|
<strong>Complete primary structure of the human type IV collagen alpha-4(IV) chain: comparison with structure and expression of the other alpha(IV) chains.</strong>
|
|
J. Biol. Chem. 269: 26172-26177, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7523402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7523402</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7523402" 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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|
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|
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Lemmink, H. H., Nillesen, W. N., Mochizuki, T., Schroder, C. H., Brunner, H. G., van Oost, B. A., Monnens, L. A. H., Smeets, H. J. M.
|
|
<strong>Benign familial hematuria due to mutation of the type IV collagen alpha-4 gene.</strong>
|
|
J. Clin. Invest. 98: 1114-1118, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8787673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8787673</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8787673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI118893" target="_blank">Full Text</a>]
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|
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|
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|
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|
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|
|
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|
|
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|
|
Lemmink, H. H., Schroder, C. H., Monnens, L. A. H., Smeets, H. J. M.
|
|
<strong>The clinical spectrum of type IV collagen mutations.</strong>
|
|
Hum. Mutat. 9: 477-499, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9195222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9195222</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9195222" 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/10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#" target="_blank">Full Text</a>]
|
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|
|
|
<li>
|
|
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|
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|
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|
|
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|
|
Mariyama, M., Leinonen, A., Mochizuki, T., Tryggvason, K., Reeders, S. T.
|
|
<strong>Complete primary structure of the human alpha-3(IV) collagen chain: coexpression of the alpha-3(IV) and alpha-4(IV) collagen chains in human tissues.</strong>
|
|
J. Biol. Chem. 269: 23013-23017, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8083201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8083201</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8083201" 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 id="Mariyama1992" class="mim-anchor"></a>
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|
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<p class="mim-text-font">
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Mariyama, M., Zheng, K., Yang-Feng, T. L., Reeders, S. T.
|
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<strong>Colocalization of the genes for the alpha-3(IV) and alpha-4(IV) chains of type IV collagen to chromosome 2 bands q35-q37.</strong>
|
|
Genomics 13: 809-813, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1639407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1639407</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1639407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(92)90157-n" target="_blank">Full Text</a>]
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<a id="Mencarelli2015" class="mim-anchor"></a>
|
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|
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|
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Mencarelli, M. A., Heidet, L., Storey, H., van Geel, M., Knebelmann, B., Fallerini, C., Miglietti, N., Antonucci, M. F., Cetta, F., Sayer, J. A., van den Wijngaard, A., Yau, S., Mari, F., Bruttini, M., Ariani, F., Dahan, K., Smeets, B., Antignac, C., Flinter, F., Renieri, A.
|
|
<strong>Evidence of digenic inheritance in Alport syndrome.</strong>
|
|
J. Med. Genet. 52: 163-174, 2015.
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25575550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25575550</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25575550" 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/10.1136/jmedgenet-2014-102822" target="_blank">Full Text</a>]
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</p>
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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="Mochizuki1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mochizuki, T., Lemmink, H. H., Mariyama, M., Antignac, C., Gubler, M.-C., Pirson, Y., Verellen-Dumoulin, C., Chan, B., Schroder, C. H., Smeets, H. J., Reeders, S. T.
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<strong>Identification of mutations in the alpha-3(IV) and alpha-4(IV) collagen genes in autosomal recessive Alport syndrome.</strong>
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Nature Genet. 8: 77-81, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987396</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987396" 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/ng0994-77" 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="Momota1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Momota, R., Sugimoto, M., Oohashi, T., Kigasawa, K., Yoshioka, H., Ninomiya, Y.
|
|
<strong>Two genes, COL4A3 and COL4A4 coding for the human alpha-3(IV) and alpha-4(IV) collagen chains are arranged head-to-head on chromosome 2q36.</strong>
|
|
FEBS Lett. 424: 11-16, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9537506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9537506</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9537506" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0014-5793(98)00128-8" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Saus1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Saus, J., Wieslander, J., Langeveld, J. P. M., Quinones, S., Hudson, B. G.
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|
<strong>Identification of the Goodpasture antigen as the alpha-3(IV) chain of collagen IV.</strong>
|
|
J. Biol. Chem. 263: 13374-13380, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3417661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3417661</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3417661" 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="15" class="mim-anchor"></a>
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<a id="Thorner1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thorner, P. S., Zheng, K., Kalluri, R., Jacobs, R., Hudson, B. G.
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<strong>Coordinate gene expression of the alpha-3, alpha-4, and alpha-5 chains if collagen type IV.</strong>
|
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J. Biol. Chem. 271: 13821-13828, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8662866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8662866</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8662866" 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/10.1074/jbc.271.23.13821" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 7/10/2015
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 5/11/2012<br>Patricia A. Hartz - updated : 7/22/2009<br>Victor A. McKusick - updated : 12/7/1998<br>Victor A. McKusick - updated : 6/23/1997<br>Perseveranda M. Cagas - updated : 9/4/1996
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 3/1/1990
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 10/10/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 10/06/2023<br>alopez : 10/06/2023<br>alopez : 10/06/2023<br>carol : 04/12/2023<br>carol : 01/31/2019<br>carol : 10/30/2015<br>alopez : 7/13/2015<br>alopez : 7/10/2015<br>carol : 9/18/2013<br>carol : 5/11/2012<br>carol : 5/27/2010<br>ckniffin : 5/21/2010<br>mgross : 8/5/2009<br>mgross : 8/4/2009<br>terry : 7/22/2009<br>carol : 2/17/2009<br>carol : 12/6/1999<br>terry : 12/2/1999<br>mgross : 6/22/1999<br>carol : 12/15/1998<br>carol : 12/11/1998<br>terry : 12/7/1998<br>terry : 7/7/1997<br>terry : 7/7/1997<br>jenny : 6/23/1997<br>mark : 10/17/1996<br>mark : 10/9/1996<br>mark : 9/4/1996<br>mark : 3/7/1996<br>mark : 1/25/1996<br>terry : 1/23/1996<br>terry : 12/22/1994<br>carol : 10/26/1993<br>carol : 9/15/1993<br>carol : 9/8/1993<br>carol : 6/29/1992<br>supermim : 3/16/1992
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 120131
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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COLLAGEN, TYPE IV, ALPHA-4; COL4A4
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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COLLAGEN OF BASEMENT MEMBRANE, ALPHA-4 CHAIN
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: COL4A4</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 236418003;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 2q36.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:226,967,360-227,164,488 </span>
|
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
|
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<tbody>
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|
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<tr>
|
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<td rowspan="2">
|
|
<span class="mim-font">
|
|
2q36.3
|
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</span>
|
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</td>
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|
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<td>
|
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<span class="mim-font">
|
|
Alport syndrome 2, autosomal recessive
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
203780
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
|
Hematuria, familial benign, 1
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
141200
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
|
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Type IV collagen is found only in basement membranes, where it is the major structural component. COL4A4 is 1 of 6 alpha chains that form the heterotrimeric type IV collagen molecules (Mariyama et al., 1994). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
|
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<span class="mim-text-font">
|
|
<p>Butkowski et al. (1987) and Saus et al. (1988) identified 2 type IV collagen alpha chains distinct from the alpha-1 (COL1A1; 120130) and alpha-2 (120090) chains. These are designated alpha-3 (120070) and alpha-4. Gunwar et al. (1990) characterized further the alpha-4 chain of type IV collagen. </p><p>Mariyama et al. (1992) isolated partial cDNAs for the COL4A4 gene. On the basis of comparisons of the deduced peptide sequences of all 5 chains of type IV collagen, Mariyama et al. (1992) concluded that they can be divided into 2 families: those that resemble alpha-1 (COL4A1, COL4A3, and COL4A5), and those that resemble alpha-2 (COL4A2 and COL4A4). The COL4A1 and COL4A2 chains are commonly found together in basement membrane and form heterotrimers. Whereas alpha-1(IV) and alpha-2(IV) are found in all basement membranes studied, alpha-3(IV) and alpha-4(IV) are found only in a subset of basement membranes. They are always found together, however. </p><p>Leinonen et al. (1994) determined the entire sequence of the COL4A4 gene. The complete translation product has 1,690 amino acid residues and the processed polypeptide contains 1,652 residues. There is a 38-residue putative signal peptide, a 1,421-residue collagenous domain starting with a 23-residue noncollagenous sequence, and a 231-residue NC1 domain. Differences and similarities with the other component chains of type IV collagen were detailed. </p><p>Using Northern blot analysis, Mariyama et al. (1994) found high expression of a 10-kb COL4A44 transcript in adult human kidney, skeletal muscle, and lung and in fetal kidney and lung. A 7.5-kb transcript was also detected in fetal kidney and lung, with weaker expression in fetal heart. Expression of COL4A4 largely overlapped that of COL4A3, suggesting that expression of the 2 transcripts may be coregulated. </p><p>Momota et al. (1998) identified 2 alternative first exons, exons 1 and 1-prime, used by COL4A4 transcripts. Both exons are noncoding. Southern blot analysis of 5-prime RACE products amplified from human tissues and cell lines showed that exon 1 was expressed predominantly in epithelial cells, while exon 1-prime was ubiquitously expressed at lower levels. </p><p>Using cDNA probes generated from normal dog kidney, Thorner et al. (1996) compared the nucleotide and deduced amino acid sequences of normal canine and human alpha-1 type IV collagen to the alpha-4 type IV and alpha-6 type IV (303631) chains. They found that the canine sequences are over 88% identical at the DNA level and over 92% identical at the protein level to the respective human alpha chains. The positions of the cysteine residues are conserved between all canine alpha type IV chains and between each canine and human alpha IV chain. </p>
|
|
</span>
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Momota et al. (1998) determined that the COL4A4 gene contains alternative noncoding first exons, designated exons 1 and 1-prime. Exon 2 contains the translation start site. The COL4A3 and COL4A4 genes are on opposite strands of chromosome 2 and are transcribed in opposite directions. The first exon of COL4A3 is separated from exons 1 and 1-prime of COL4A4 by 372 and 5 bp, respectively. The promoter region, which is shared by both genes, is composed of dense CpG dinucleotides, GC boxes, CTC boxes, and a CCAAT box, but not a TATA box. </p><p>Boye et al. (1998) determined that the COL4A4 gene contains 48 exons. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<span class="mim-text-font">
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<p>By analysis of somatic cell hybrids and by in situ hybridization, Mariyama et al. (1992) mapped the COL4A3 and COL4A4 genes to the same region, 2q35-q37. </p><p>Mariyama et al. (1992) stated that COL4A1 and COL4A2 map to 13q34 and are transcribed from opposite DNA strands using a common bidirectional promoter that allows coordinate regulation of the 2 chains. The COL4A3 and COL4A4 genes are arranged in a head-to-head manner on 2q. </p><p>Kamagata et al. (1992) compared the COL4A4 chain with the other 4 chains of type IV collagen. Using a human genomic DNA fragment for in situ hybridization, they mapped the COL4A4 gene to 2q35-q37.1. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<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>Of 7 families with presumed autosomal recessive Alport syndrome (ATS2; 203780), Mochizuki et al. (1994) demonstrated COL4A4 mutations in 2 (120131.0001-120131.0002). </p><p>Lemmink et al. (1997) reviewed the clinical spectrum associated with mutations of the several chains of type IV collagen. They listed the 3 mutations that had been identified in the COL4A4 gene: 1 in familial benign hematuria (120131.0003) and 2 in Alport syndrome with development of renal failure at 14 and 18 years of age, respectively. </p><p>Boye et al. (1998) characterized the 48 exons of the COL4A4 gene and detected 10 novel mutations in 8 patients diagnosed with autosomal recessive Alport syndrome (see, e.g., 120131.0004-120131.0006). Furthermore, they identified a glycine-to-alanine substitution in the collagenous domain that is apparently silent in heterozygous carriers, in 11.5% of all control individuals, and in 1 control individual homozygous for this glycine substitution. There had been no previous finding of a glycine substitution that was not associated with any obvious phenotype in homozygous individuals. </p><p>In affected members of 4 unrelated families with benign familial hematuria, Badenas et al. (2002) identified 4 different heterozygous mutations in the COL4A4 gene (see, e.g., 120131.0007 and 120131.0008). </p><p><strong><em>Evidence of Digenic Inheritance in Alport Syndrome</em></strong></p><p>
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Using massively parallel sequencing, Mencarelli et al. (2015) identified 11 patients with Alport syndrome who had pathogenic mutations in 2 of the 3 collagen IV genes. Seven patients had a combination of mutations in COL4A3 (120070) and COL4A4, whereas 4 patients had 1 or 2 mutations in COL4A4 associated with mutation in COL4A5 (303630). In no case were there simultaneous COL4A3 and COL4A5 mutations. Altogether, 23 unique mutations were found, including 7 in COL4A3, 12 in COL4A4, and 4 in COL4A5. The mutations involved all domains of the collagen molecules, although the majority of missense mutations (11 of 13) affected the triple-helical collagenous domain, and 11 missense mutations substituted a critical glycine residue in this domain. Thirteen mutations had been previously reported and 10 were novel. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the COL4A4 gene and keratoconus, see KTCN1 (148300).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Canine X-linked hereditary nephritis is an animal model for human X-linked hereditary nephritis (Alport syndrome) (301050) characterized by the presence of a premature stop codon in the alpha-5 chain (303630) of collagen type IV. Thorner et al. (1996) examined expression of the canine collagen type IV genes in the kidney. They detected alpha-3, alpha-4, and alpha-5 chains in the noncollagenous domain of type IV collagen isolated from normal dog glomeruli but not in affected dog glomeruli. In addition to a significantly reduced level of COL4A5 gene expression (approximately 10% of normal), expression of the COL4A3 and COL4A4 genes was also decreased to 14 to 23% and 11 to 17%, respectively. These findings suggested to Thorner et al. (1996) a mechanism that coordinates the expression of these 3 basement membrane proteins. </p><p>See 120070 for the description of a mouse model of human Alport syndrome.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>8 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0001 ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE</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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COL4A4, GLY1201SER
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<br />
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SNP: rs121912858,
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ClinVar: RCV000018947
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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 2 Algerian sisters (family BE) with autosomal recessive Alport syndrome (ATS2; 203780), Mochizuki et al. (1994) identified homozygosity for a G-to-A transition in a portion of the COL4A4 gene representing a segment of the 3-prime third of the alpha-4(IV) collagenous domain. The mutation resulted in a substitution of a serine residue for a glycine residue that is part of the Gly-X-Y collagenous repeat. The authors considered the variant pathogenic for several reasons. The asymptomatic consanguineous parents and an unaffected brother were heterozygous for the variant. The mutant allele was not observed in 32 unrelated persons from the same North African population. Similar glycine-to-serine substitutions had been observed in the fibrillar collagens encoded by the COL1A1 and COL1A2 genes in osteogenesis imperfecta. Moreover, a serine-for-glycine substitution had been observed in the alpha-5(IV) chain in a patient with X-linked Alport syndrome (301050). The authors noted that the glycine-to-serine mutations in both the COL4A4 and COL4A5 genes are recessive, whereas similar mutations in fibrillar collagens are dominant. In the Algerian family, end-stage renal disease developed in the older sister at the age of 14, but no deafness or ocular abnormalities had been observed. The other sister was noted at age 11 to have the nephrotic syndrome without a decrease in renal function; likewise, no deafness or ocular abnormalities were found. </p><p>In a review of mutations in the type IV collagen genes, Lemmink et al. (1997) stated that this mutation was a G-to-A transition at nucleotide 3809, resulting in a gly1201-to-ser (G1201S) amino acid substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0002 ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE</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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COL4A4, SER1238TER
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<br />
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SNP: rs121912859,
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ClinVar: RCV000018948, RCV002496408, RCV002513114
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In an Italian girl (family GA) with autosomal recessive Alport syndrome (ATS2; 203780), Mochizuki et al. (1994) observed a homozygous substitution of A for C in the collagenous domain of alpha-4(IV). The mutation replaced a serine codon with a stop codon, causing premature chain termination and shortening of the chain by 453 amino acids. The parents were not known to be consanguineous but shared the same surname and originated from the same village in Italy. Two of the proband's sisters had died at ages 8 and 12 years, apparently of Alport syndrome. </p><p>In a review of mutations in the type IV collagen genes, Lemmink et al. (1997) indicated that this homozygous mutation was a C-to-A transversion at nucleotide 3921, resulting in a ser1238-to-ter (S1238X) nonsense mutation. Renal failure occurred at age 18 years. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0003 HEMATURIA, BENIGN FAMILIAL, 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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COL4A4, GLY897GLU
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<br />
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SNP: rs121912860,
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ClinVar: RCV000018949, RCV000666567, RCV000710841, RCV004576907, RCV005003386
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>Benign familial hematuria (BFH1; 141200) is characterized by autosomal dominant inheritance, thinning of the glomerular basement membrane (GBM), and normal renal function. It is frequent in patients with persistent microscopic hematuria, but cannot be clinically differentiated from the initial stages of Alport syndrome (see 203780), a severe GBM disorder which progresses to renal failure. Lemmink et al. (1996) demonstrated linkage of BFH with the COL4A3 and COL4A4 genes at 2q35-q37 and went on to demonstrate a GGG-to-GAG transition in codon 897 of COL4A4 resulting in substitution of a glutamic acid residue for glycine. The G-to-A mutation in this family introduced a novel site for the restriction enzyme AluI, by which the members of the family were screened. All affected members of the family in 3 generations were heterozygous. The index patient, a member of the third generation, presented with hematuria at the age of 5 years. Family history was negative for renal failure and deafness. Electron microscopy of a renal biopsy specimen showed regions with malformations of the GBM typical for Alport syndrome and regions that were thin. Microscopic hematuria was present in many relatives, including the 75-year-old paternal grandfather who had a normal serum creatinine concentration. The family was complicated by the fact that the mother of the index case also had microscopic hematuria as did many of her relatives. She did not carry the gly897-to-glu mutation nor was another mutation identified. The index patient, 16 years old at the time of the report, had developed proteinuria and may have inherited a COL4A4 gene mutation from both parents. Lemmink et al. (1996) speculated that this might account for the histologic changes in the GBM suggesting Alport syndrome. Homozygous mutations in COL4A3 and COL4A4 have been identified in autosomal recessive Alport syndrome. </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 ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
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|
|
|
COL4A4, ARG1377TER
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|
|
<br />
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|
|
SNP: rs121912861,
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|
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|
|
|
gnomAD: rs121912861,
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|
|
|
|
|
ClinVar: RCV000018950, RCV000681673, RCV000787008, RCV001251501, RCV001328062, RCV001526639, RCV004528124, RCV005025069
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with autosomal recessive Alport syndrome (ALS2; 203780), Boye et al. (1998) found that affected individuals were compound heterozygotes for 2 mutations in the COL4A4 gene: a C-to-T transition at nucleotide 4337 in exon 44, resulting in an arg1377-to-ter (R1377X) nonsense mutation; and a C-to-A transversion at nucleotide 5131 resulting in a cys1641-to-ter (C1641X; 120131.0005) nonsense mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL4A4, CYS1641TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912862,
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|
|
|
|
|
|
|
ClinVar: RCV000018951, RCV002514112
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 513C-A transversion in the COL4A4 gene, resulting in a cys164-to-ter (C164X) substitution, that was found in compound heterozygous state in affected members of a family with autosomal recessive Alport syndrome (ATS2; 203780) by Boye et al. (1998), see 120131.0004. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL4A4, PRO1572LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912863,
|
|
|
|
|
|
gnomAD: rs121912863,
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|
|
|
|
|
ClinVar: RCV000018952, RCV000825912, RCV001140736, RCV001245590, RCV002293986, RCV004018643, RCV004737159, RCV005025070
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Boye et al. (1998) found that one of the alleles of the COL4A4 gene in a patient with autosomal recessive Alport syndrome (ATS2; 203780) carried a C-to-T transition at nucleotide 4923 in exon 47, resulting in a pro1572-to-leu (P1572L) substitution. The change was not found in any of 48 control individuals. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
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|
</div>
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|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 HEMATURIA, BENIGN FAMILIAL, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL4A4, 1-BP INS, 3222A
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|
|
<br />
|
|
|
|
SNP: rs1559493506,
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|
|
|
|
|
|
|
ClinVar: RCV004576908
|
|
|
|
|
|
</span>
|
|
</div>
|
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|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family (HFB-7) with benign familial hematuria (BFH1; 141200), Badenas et al. (2002) identified a heterozygous 1-bp insertion (3222insA) in exon 35 of the COL4A4 gene, predicted to result in a frameshift and premature termination. </p>
|
|
</span>
|
|
</div>
|
|
|
|
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|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 HEMATURIA, BENIGN FAMILIAL, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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<div>
|
|
<span class="mim-text-font">
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|
|
|
COL4A4, GLY960ARG
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|
|
<br />
|
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|
|
SNP: rs769783985,
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|
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|
|
|
gnomAD: rs769783985,
|
|
|
|
|
|
ClinVar: RCV004576909
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family (HFB-9) with benign familial hematuria (BFH1; 141200), Badenas et al. (2002) identified a heterozygous mutation in exon 32 of the COL4A4 gene, resulting in a gly960-to-arg (G960R) substitution. The mutation was not found in 200 control chromosomes. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
|
<ol>
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Badenas, C., Praga, M., Tazon, B., Heidet, L., Arrondel, C., Armengol, A., Andres, A., Morales. E., Camacho, J. A., Lens, X., Davila, S., Mila, M., Antignac, C., Darnell, A., Torra, R.
|
|
<strong>Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria.</strong>
|
|
J. Am. Soc. Nephrol. 13: 1248-1254, 2002.
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|
[PubMed: 11961012]
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[Full Text: https://doi.org/10.1681/ASN.V1351248]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Boye, E., Mollet, G., Forestier, L., Cohen-Solal, L., Heidet, L., Cochat, P., Grunfeld, J.-P., Palcoux, J.-B., Gubler, M.-C., Antignac, C.
|
|
<strong>Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.</strong>
|
|
Am. J. Hum. Genet. 63: 1329-1340, 1998.
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[PubMed: 9792860]
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[Full Text: https://doi.org/10.1086/302106]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Butkowski, R. J., Langeveld, J. P. M., Wieslander, J., Hamilton, J., Hudson, B. G.
|
|
<strong>Localization of the Goodpasture epitope to a novel chain of basement membrane collagen.</strong>
|
|
J. Biol. Chem. 262: 7874-7877, 1987.
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[PubMed: 2438283]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Gunwar, S., Saus, J., Noelken, M. E., Hudson, B. G.
|
|
<strong>Glomerular basement membrane: identification of a fourth chain, alpha-4, of type IV collagen.</strong>
|
|
J. Biol. Chem. 265: 5466-5469, 1990.
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|
|
|
|
|
[PubMed: 2318822]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kamagata, Y., Mattei, M.-G., Ninomiya, Y.
|
|
<strong>Isolation and sequencing of cDNAs and genomic DNAs encoding the alpha 4 chain of basement membrane collagen type IV and assignment of the gene to the distal long arm of human chromosome 2.</strong>
|
|
J. Biol. Chem. 267: 23753-23758, 1992.
|
|
|
|
|
|
[PubMed: 1429714]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Leinonen, A., Mariyama, M., Mochizuki, T., Tryggvason, K., Reeders, S. T.
|
|
<strong>Complete primary structure of the human type IV collagen alpha-4(IV) chain: comparison with structure and expression of the other alpha(IV) chains.</strong>
|
|
J. Biol. Chem. 269: 26172-26177, 1994.
|
|
|
|
|
|
[PubMed: 7523402]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lemmink, H. H., Nillesen, W. N., Mochizuki, T., Schroder, C. H., Brunner, H. G., van Oost, B. A., Monnens, L. A. H., Smeets, H. J. M.
|
|
<strong>Benign familial hematuria due to mutation of the type IV collagen alpha-4 gene.</strong>
|
|
J. Clin. Invest. 98: 1114-1118, 1996.
|
|
|
|
|
|
[PubMed: 8787673]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI118893]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lemmink, H. H., Schroder, C. H., Monnens, L. A. H., Smeets, H. J. M.
|
|
<strong>The clinical spectrum of type IV collagen mutations.</strong>
|
|
Hum. Mutat. 9: 477-499, 1997.
|
|
|
|
|
|
[PubMed: 9195222]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mariyama, M., Leinonen, A., Mochizuki, T., Tryggvason, K., Reeders, S. T.
|
|
<strong>Complete primary structure of the human alpha-3(IV) collagen chain: coexpression of the alpha-3(IV) and alpha-4(IV) collagen chains in human tissues.</strong>
|
|
J. Biol. Chem. 269: 23013-23017, 1994.
|
|
|
|
|
|
[PubMed: 8083201]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mariyama, M., Zheng, K., Yang-Feng, T. L., Reeders, S. T.
|
|
<strong>Colocalization of the genes for the alpha-3(IV) and alpha-4(IV) chains of type IV collagen to chromosome 2 bands q35-q37.</strong>
|
|
Genomics 13: 809-813, 1992.
|
|
|
|
|
|
[PubMed: 1639407]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(92)90157-n]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mencarelli, M. A., Heidet, L., Storey, H., van Geel, M., Knebelmann, B., Fallerini, C., Miglietti, N., Antonucci, M. F., Cetta, F., Sayer, J. A., van den Wijngaard, A., Yau, S., Mari, F., Bruttini, M., Ariani, F., Dahan, K., Smeets, B., Antignac, C., Flinter, F., Renieri, A.
|
|
<strong>Evidence of digenic inheritance in Alport syndrome.</strong>
|
|
J. Med. Genet. 52: 163-174, 2015.
|
|
|
|
|
|
[PubMed: 25575550]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmedgenet-2014-102822]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mochizuki, T., Lemmink, H. H., Mariyama, M., Antignac, C., Gubler, M.-C., Pirson, Y., Verellen-Dumoulin, C., Chan, B., Schroder, C. H., Smeets, H. J., Reeders, S. T.
|
|
<strong>Identification of mutations in the alpha-3(IV) and alpha-4(IV) collagen genes in autosomal recessive Alport syndrome.</strong>
|
|
Nature Genet. 8: 77-81, 1994.
|
|
|
|
|
|
[PubMed: 7987396]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0994-77]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Momota, R., Sugimoto, M., Oohashi, T., Kigasawa, K., Yoshioka, H., Ninomiya, Y.
|
|
<strong>Two genes, COL4A3 and COL4A4 coding for the human alpha-3(IV) and alpha-4(IV) collagen chains are arranged head-to-head on chromosome 2q36.</strong>
|
|
FEBS Lett. 424: 11-16, 1998.
|
|
|
|
|
|
[PubMed: 9537506]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0014-5793(98)00128-8]
|
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</p>
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</li>
|
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|
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<li>
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<p class="mim-text-font">
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Saus, J., Wieslander, J., Langeveld, J. P. M., Quinones, S., Hudson, B. G.
|
|
<strong>Identification of the Goodpasture antigen as the alpha-3(IV) chain of collagen IV.</strong>
|
|
J. Biol. Chem. 263: 13374-13380, 1988.
|
|
|
|
|
|
[PubMed: 3417661]
|
|
|
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|
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Thorner, P. S., Zheng, K., Kalluri, R., Jacobs, R., Hudson, B. G.
|
|
<strong>Coordinate gene expression of the alpha-3, alpha-4, and alpha-5 chains if collagen type IV.</strong>
|
|
J. Biol. Chem. 271: 13821-13828, 1996.
|
|
|
|
|
|
[PubMed: 8662866]
|
|
|
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|
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[Full Text: https://doi.org/10.1074/jbc.271.23.13821]
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