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<title>
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Entry
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- *103850 - ALDOLASE A, FRUCTOSE-BISPHOSPHATE; ALDOA
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- OMIM
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<a href="/search/advanced/entry"> OMIM </a>
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<p>
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<span class="h4">*103850</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/103850">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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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=ENSG00000149925;t=ENST00000642816" 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=226" 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=103850" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000149925;t=ENST00000642816" 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_001127617,NM_001243177,NM_184041,NM_184043" 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_001243177" 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=103850" 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=00070&isoform_id=00070_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/ALDOA" 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/28595,28597,28614,113606,178351,178404,4433151,13279257,14715001,15277571,15488981,16198435,16740581,16877049,34577110,34577112,38197498,49168540,49456715,119600339,119600340,119600341,119600342,134254704,134254706,193794814,194378468,233142336,342187211,925169871" 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/P04075" 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=226" 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=ENSG00000149925;t=ENST00000642816" 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=ALDOA" 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=ALDOA" 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+226" 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/ALDOA" 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:226" 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/226" 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=chr16&hgg_gene=ENST00000642816.3&hgg_start=30064279&hgg_end=30070420&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
|
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:414" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=103850[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><a href="https://www.possumcore.com/nuxeo/nxdoc/default/1646f185-2c78-4378-8d49-21f0eb9c97a0/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</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=103850[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000149925" 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=ALDOA" 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=ALDOA" 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=ALDOA" 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=ALDOA&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/PA24707" 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:414" 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/FBgn0000064.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:87994" 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/ALDOA#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:87994" 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/226/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=226" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00011474;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-8369" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
|
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:226" 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=ALDOA&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> 1187461004<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
|
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103850
|
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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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ALDOLASE A, FRUCTOSE-BISPHOSPHATE; ALDOA
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</span>
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</h3>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A<br />
|
|
ALDOLASE A; ALDA<br />
|
|
ALDOLASE 1<br />
|
|
FRUCTOALDOLASE A
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ALDOA" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ALDOA</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/16/342?start=-3&limit=10&highlight=342">16p11.2</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:30064279-30070420&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'})">16:30,064,279-30,070,420</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<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">
|
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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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PheneGene Graphics <span class="caret"></span>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>Fructose-1,6-bisphosphate aldolase (<a href="https://enzyme.expasy.org/EC/4.1.2.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 4.1.2.13</a>) is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. The enzyme is a tetramer of identical 40-kD subunits. Vertebrates have 3 aldolase isozymes, aldolases A, B (ALDOB; <a href="/entry/612724">612724</a>), and C (ALDOC; <a href="/entry/103870">103870</a>), which are distinguished by their electrophoretic and catalytic properties. The sequence of the aldolases around the active-site lysine is highly conserved in evolution. Mammalian tissues express aldolase isozymes in a well-characterized pattern. Developing embryo produces aldolase A, which continues to be expressed in many adult tissues, sometimes at much higher levels than in embryo. In adult muscle, aldolase A can be as much as 5% of total cellular protein. In adult liver, kidney, and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. In transformed liver cells, aldolase A replaces aldolase B (<a href="#14" class="mim-tip-reference" title="Rottmann, W. H., Tolan, D. R., Penhoet, E. E. <strong>Complete amino acid sequence for human aldolase B derived from cDNA and genomic clones.</strong> Proc. Nat. Acad. Sci. 81: 2738-2742, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6585824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6585824</a>] [<a href="https://doi.org/10.1073/pnas.81.9.2738" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6585824">Rottmann et al., 1984</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6585824" 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>Electrophoretic variants of fructoaldolase were reported by <a href="#2" class="mim-tip-reference" title="Charlesworth, D. <strong>Starch-gel electrophoresis of four enzymes from human red blood cells: glyceraldehyde-3-phosphate dehydrogenase, fructoaldolase, glyoxalase II and sorbitol dehydrogenase.</strong> Ann. Hum. Genet. 35: 477-484, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5073693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5073693</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1957.tb01873.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5073693">Charlesworth (1972)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5073693" 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="#15" class="mim-tip-reference" title="Sakakibara, M., Mukai, T., Hori, K. <strong>Nucleotide sequence of a cDNA clone for human aldolase: a messenger RNA in the liver.</strong> Biochem. Biophys. Res. Commun. 131: 413-420, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3840020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3840020</a>] [<a href="https://doi.org/10.1016/0006-291x(85)91818-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3840020">Sakakibara et al. (1985)</a> cloned aldolase A from a human liver cDNA library. The deduced protein contains 363 amino acids. RNA blot analysis revealed a 1.6-kb ALDOA mRNA in skeletal muscle and a 1.7-kb ALDOA mRNA in liver and placenta. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3840020" 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="Freemont, P. S., Dunbar, B., Fothergill-Gilmore, L. A. <strong>The complete amino acid sequence of human skeletal-muscle fructose-bisphosphate aldolase.</strong> Biochem. J. 249: 779-788, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3355497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3355497</a>] [<a href="https://doi.org/10.1042/bj2490779" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3355497">Freemont et al. (1988)</a> presented the complete amino acid sequence of human skeletal muscle fructose-bisphosphate aldolase, comprising 363 residues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3355497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Izzo, P., Costanzo, P., Lupo, A., Rippa, E., Paolella, G., Salvatore, F. <strong>Human aldolase A gene: structural organization and tissue-specific expression by multiple promoters and alternate mRNA processing.</strong> Europ. J. Biochem. 174: 569-578, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3391172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3391172</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1988.tb14136.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3391172">Izzo et al. (1988)</a> found that the ALDOA gene spans 7.5 kb and contains 12 exons. It occurs as a single copy per haploid human genome. Eight exons containing the coding sequence were common to all mRNAs extracted from several mammalian sources. Four additional exons were identified in the 5-prime UTR: the first was contained in the ubiquitous mRNA, the second in the muscle-specific mRNA, and the third and fourth in a minor mRNA in human liver. S(1)-nuclease-protection analysis of the 5-prime end of mRNA from cultured fibroblasts, muscle, and hepatoma cell lines revealed 4 different transcription initiation sites. The presence of conventional sequences for 4 eukaryotic promoters was also demonstrated. The nucleotide similarities in the coding region and the intron-exon organization of aldolases A, B, and C confirmed that they arose from a common ancestral gene, with aldolase B diverging first. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3391172" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Harris, H. <strong>Personal Communication.</strong> London, England 1974."None>Harris (1974)</a> concluded that 3 loci determine aldolase. <a href="#3" class="mim-tip-reference" title="Cohen-Haguenauer, O., Van Cong, N., Mennecier, F., Kahn, A., Frezal, J. <strong>The human aldolase A gene is on chromosome 16.(Abstract)</strong> Cytogenet. Cell Genet. 40: 605, 1985."None>Cohen-Haguenauer et al. (1985)</a> assigned aldolase A to chromosome 16, whereas <a href="#11" class="mim-tip-reference" title="Kukita, A., Yoshida, M. C., Sakakibara, M., Mukai, T., Hori, K. <strong>Molecular gene mapping of the structural gene for human aldolase A (ALDOA) to chromosome 22.(Abstract)</strong> Cytogenet. Cell Genet. 40: 674, 1985."None>Kukita et al. (1985)</a> assigned it to chromosome 22. However, <a href="#10" class="mim-tip-reference" title="Kukita, A., Yoshida, M. C., Fukushige, S., Sakakibara, M., Joh, K., Mukai, T., Hori, K. <strong>Molecular gene mapping of human aldolase A (ALDOA) gene to chromosome 16.</strong> Hum. Genet. 76: 20-26, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3570299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3570299</a>] [<a href="https://doi.org/10.1007/BF00283044" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3570299">Kukita et al. (1987)</a> mapped the ALDOA gene to chromosome 16 by 3 different methods: molecular hybridization to hybrid cell DNA, molecular hybridization to DNA of sorted metaphase chromosomes, and in situ hybridization. In situ hybridization indicated that the gene is located on the chromosome 16q22-q24 band. <a href="#16" class="mim-tip-reference" title="Serero, S., Maire, P., Van Cong, N., Cohen-Haguenauer, O., Gross, M. S., Jegou-Foubert, C., de Tand, M. F., Kahn, A., Frezal, J. <strong>Localization of the active gene of aldolase on chromosome 16, and two aldolase A pseudogenes on chromosomes 3 and 10.</strong> Hum. Genet. 78: 167-174, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2828224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2828224</a>] [<a href="https://doi.org/10.1007/BF00278190" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2828224">Serero et al. (1988)</a> also assigned the aldolase A gene to chromosome 16 by Southern blot analysis of human genomic DNA with a cDNA probe. Aldolase A pseudogenes were found on chromosomes 3 and 10. The map location of the 3 aldolase genes and the aldolase pseudogene (see <a href="/entry/612724">612724</a>) is of considerable interest from the point of view of chromosome evolution. The 4 genes are found on 2 pairs of morphologically similar chromosomes, 9 and 10, and 16 and 17. These homeologous (i.e., of similar origin) chromosome pairs may have arisen from 1 or 2 tetraploidization events (<a href="#4" class="mim-tip-reference" title="Comings, D. E. <strong>Evidence of ancient tetraploidy and conservation of linkage groups in mammalian chromosomes.</strong> Nature 238: 455-457, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4561854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4561854</a>] [<a href="https://doi.org/10.1038/238455a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4561854">Comings, 1972</a>; <a href="#12" class="mim-tip-reference" title="Ohno, S. <strong>Ancient linkage groups and frozen accidents.</strong> Nature 244: 259-262, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4200792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4200792</a>] [<a href="https://doi.org/10.1038/244259a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4200792">Ohno, 1973</a>). As predicted by the chromosomal locations, the coding sequences of the expressed aldolase A and C genes on chromosomes 16 and 17, respectively, are more homologous to each other than either of them is to the expressed aldolase B gene on chromosome 9. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4561854+4200792+3570299+2828224" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Amberger, J. S. <strong>Personal Communication.</strong> Baltimore, Md. 3/6/2008."None>Amberger (2008)</a> mapped the ALDOA gene to chromosome 16p11.2 based on an alignment of the ALDOA sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=M11560" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">M11560</a>) with the genomic sequence (build 36.2).</p>
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<p><a href="#8" class="mim-tip-reference" title="Kishi, H., Mukai, T., Hirono, A., Fujii, H., Miwa, S., Hori, K. <strong>Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation.</strong> Proc. Nat. Acad. Sci. 84: 8623-8627, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2825199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2825199</a>] [<a href="https://doi.org/10.1073/pnas.84.23.8623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2825199">Kishi et al. (1987)</a> studied a patient with red cell aldolase deficiency, or glycogen storage disease XII (GSD12; <a href="/entry/611881">611881</a>), and identified a mutation in the ALDOA gene that resulted in an asp128-to-gly (D128G; <a href="#0001">103850.0001</a>) substitution in the protein. The patient's enzyme from red cells and from cultured lymphoblastoid cells was highly thermolabile, and the enzyme expressed in E. coli was likewise thermolabile. The parents had intermediate levels of red cell aldolase A. Southern blot analysis of genomic DNA showed that the patient was homozygous for a mutation that was heterozygous in both parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2825199" 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 boy with aldolase A deficiency, <a href="#9" class="mim-tip-reference" title="Kreuder, J., Borkhardt, A., Repp, R., Pekrun, A., Gottsche, B., Gottschalk, U., Reichmann, H., Schachenmayr, W., Schlegel, K., Lampert, F. <strong>Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A.</strong> New Eng. J. Med. 334: 1100-1104, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8598869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8598869</a>] [<a href="https://doi.org/10.1056/NEJM199604253341705" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8598869">Kreuder et al. (1996)</a> identified a homozygous germline mutation in the ALDOA gene that resulted substitution of a negatively charged glutamic acid with a positively charged lysine at the highly conserved residue 206 (E206L; <a href="#0002">103850.0002</a>). The affected residue is highly conserved within the subunit interface region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8598869" 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="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>2 Selected Examples</a>):</strong>
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<a href="/allelicVariants/103850" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=103850[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 GLYCOGEN STORAGE DISEASE XII</strong>
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ALDOA, ASP128GLY
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121909533 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909533;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=rs121909533" 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=rs121909533" 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=RCV000019808" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019808" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019808</a>
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<p>In a patient with red cell aldolase deficiency, or glycogen storage disease XII (GSD12; <a href="/entry/611881">611881</a>), <a href="#8" class="mim-tip-reference" title="Kishi, H., Mukai, T., Hirono, A., Fujii, H., Miwa, S., Hori, K. <strong>Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation.</strong> Proc. Nat. Acad. Sci. 84: 8623-8627, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2825199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2825199</a>] [<a href="https://doi.org/10.1073/pnas.84.23.8623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2825199">Kishi et al. (1987)</a> identified an A-G transition at nucleotide 386 in the codon for the 128th amino acid, leading to a change from aspartic acid (GAU) to glycine (GGU) (D128G) in the aldolase protein. The patient's enzyme from red cells and from cultured lymphoblastoid cells was highly thermolabile, and the enzyme expressed in E. coli was likewise thermolabile. Since asp128 is conserved in aldolase A, B (<a href="/entry/612724">612724</a>), and C (<a href="/entry/103870">103870</a>) of eukaryotes, including Drosophila, this residue likely has a crucial role in maintaining the correct spatial structure or in performing the catalytic function of the enzyme. The parents had intermediate levels of red cell aldolase A. The change in the aspartic acid codon extinguished an Fok1 restriction site (GGATG to GGGTG). Southern blot analysis of genomic DNA showed that the patient was homozygous for a mutation that was heterozygous in both parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2825199" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4>
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<span class="mim-font">
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<strong>.0002 GLYCOGEN STORAGE DISEASE XII</strong>
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ALDOA, GLU206LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121909534 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909534;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=rs121909534" 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=rs121909534" 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=RCV000019809" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019809" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019809</a>
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</span>
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</div>
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<span class="mim-text-font">
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<p><a href="#9" class="mim-tip-reference" title="Kreuder, J., Borkhardt, A., Repp, R., Pekrun, A., Gottsche, B., Gottschalk, U., Reichmann, H., Schachenmayr, W., Schlegel, K., Lampert, F. <strong>Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A.</strong> New Eng. J. Med. 334: 1100-1104, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8598869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8598869</a>] [<a href="https://doi.org/10.1056/NEJM199604253341705" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8598869">Kreuder et al. (1996)</a> described a 4 1/2-year-old boy with predominantly myopathic symptoms of aldolase A deficiency (GSD12; <a href="/entry/611881">611881</a>) due to substitution of a single amino acid within the subunit interface most essential for the tetrameric structure of the enzyme. The patient showed muscle weakness and premature muscle fatigue. He was unable to walk for more than 10 minutes or climb more than 20 steps at a time. Several unexplained episodes of jaundice and anemia required blood transfusions during the first year of life. The parents were healthy and nonconsanguineous. The patient showed slight jaundice, diminished muscle mass, reduced muscle tone, and proximal muscle weakness. The liver and spleen were somewhat enlarged. Creatine kinase was markedly elevated in the blood of this patient, and several muscle enzymes, as well as serum bilirubin, were increased. Codon 206 of the ALDOA gene was found to have a homozygous transition from GAG (glu) to AAG (lys) (E206K). The authors noted that a glutamate is present in all human aldolases at position 206 of the enzyme. Both parents and a healthy brother were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8598869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<div>
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<br />
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<div>
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<a id="seeAlso" class="mim-anchor"></a>
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<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>See Also:</strong>
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</span>
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</h4>
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<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<a href="#Penhoet1966" class="mim-tip-reference" title="Penhoet, E., Rajkumar, T., Rutter, W. J. <strong>Multiple forms of fructose diphosphate aldolase in mammalian tissues.</strong> Proc. Nat. Acad. Sci. 56: 1275-1282, 1966.">Penhoet et al. (1966)</a>; <a href="#Tolan1987" class="mim-tip-reference" title="Tolan, D. R., Niclas, J., Bruce, B. D., Lebo, R. V. <strong>Evolutionary implications of the human aldolase-A, -B, -C, and -pseudogene chromosome locations.</strong> Am. J. Hum. Genet. 41: 907-924, 1987.">Tolan et al. (1987)</a>
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</span>
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<div>
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<br />
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</div>
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<a id="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<ol>
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<a id="1" class="mim-anchor"></a>
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<a id="Amberger2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Amberger, J. S.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 3/6/2008.
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<a id="Charlesworth1972" class="mim-anchor"></a>
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<p class="mim-text-font">
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Charlesworth, D.
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<strong>Starch-gel electrophoresis of four enzymes from human red blood cells: glyceraldehyde-3-phosphate dehydrogenase, fructoaldolase, glyoxalase II and sorbitol dehydrogenase.</strong>
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Ann. Hum. Genet. 35: 477-484, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5073693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5073693</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5073693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1957.tb01873.x" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Cohen-Haguenauer1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Cohen-Haguenauer, O., Van Cong, N., Mennecier, F., Kahn, A., Frezal, J.
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<strong>The human aldolase A gene is on chromosome 16.(Abstract)</strong>
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Cytogenet. Cell Genet. 40: 605, 1985.
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<a id="4" class="mim-anchor"></a>
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<a id="Comings1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Comings, D. E.
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<strong>Evidence of ancient tetraploidy and conservation of linkage groups in mammalian chromosomes.</strong>
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Nature 238: 455-457, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4561854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4561854</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4561854" 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/10.1038/238455a0" target="_blank">Full Text</a>]
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<a id="Freemont1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Freemont, P. S., Dunbar, B., Fothergill-Gilmore, L. A.
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<strong>The complete amino acid sequence of human skeletal-muscle fructose-bisphosphate aldolase.</strong>
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Biochem. J. 249: 779-788, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3355497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3355497</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3355497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1042/bj2490779" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Harris1974" class="mim-anchor"></a>
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Harris, H.
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<strong>Personal Communication.</strong>
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London, England 1974.
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<a id="7" class="mim-anchor"></a>
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<a id="Izzo1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Izzo, P., Costanzo, P., Lupo, A., Rippa, E., Paolella, G., Salvatore, F.
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<strong>Human aldolase A gene: structural organization and tissue-specific expression by multiple promoters and alternate mRNA processing.</strong>
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Europ. J. Biochem. 174: 569-578, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3391172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3391172</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3391172" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1432-1033.1988.tb14136.x" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Kishi1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kishi, H., Mukai, T., Hirono, A., Fujii, H., Miwa, S., Hori, K.
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<strong>Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation.</strong>
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Proc. Nat. Acad. Sci. 84: 8623-8627, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2825199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2825199</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2825199" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.84.23.8623" target="_blank">Full Text</a>]
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<a id="Kreuder1996" class="mim-anchor"></a>
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Kreuder, J., Borkhardt, A., Repp, R., Pekrun, A., Gottsche, B., Gottschalk, U., Reichmann, H., Schachenmayr, W., Schlegel, K., Lampert, F.
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<strong>Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A.</strong>
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New Eng. J. Med. 334: 1100-1104, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8598869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8598869</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8598869" 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/10.1056/NEJM199604253341705" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Kukita1987" class="mim-anchor"></a>
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<p class="mim-text-font">
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Kukita, A., Yoshida, M. C., Fukushige, S., Sakakibara, M., Joh, K., Mukai, T., Hori, K.
|
|
<strong>Molecular gene mapping of human aldolase A (ALDOA) gene to chromosome 16.</strong>
|
|
Hum. Genet. 76: 20-26, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3570299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3570299</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3570299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00283044" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Kukita1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kukita, A., Yoshida, M. C., Sakakibara, M., Mukai, T., Hori, K.
|
|
<strong>Molecular gene mapping of the structural gene for human aldolase A (ALDOA) to chromosome 22.(Abstract)</strong>
|
|
Cytogenet. Cell Genet. 40: 674, 1985.
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Ohno1973" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ohno, S.
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|
<strong>Ancient linkage groups and frozen accidents.</strong>
|
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Nature 244: 259-262, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4200792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4200792</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4200792" 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/10.1038/244259a0" 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="Penhoet1966" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Penhoet, E., Rajkumar, T., Rutter, W. J.
|
|
<strong>Multiple forms of fructose diphosphate aldolase in mammalian tissues.</strong>
|
|
Proc. Nat. Acad. Sci. 56: 1275-1282, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5230152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5230152</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5230152" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.56.4.1275" 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="Rottmann1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Rottmann, W. H., Tolan, D. R., Penhoet, E. E.
|
|
<strong>Complete amino acid sequence for human aldolase B derived from cDNA and genomic clones.</strong>
|
|
Proc. Nat. Acad. Sci. 81: 2738-2742, 1984.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6585824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6585824</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6585824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.81.9.2738" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Sakakibara1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sakakibara, M., Mukai, T., Hori, K.
|
|
<strong>Nucleotide sequence of a cDNA clone for human aldolase: a messenger RNA in the liver.</strong>
|
|
Biochem. Biophys. Res. Commun. 131: 413-420, 1985.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3840020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3840020</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3840020" 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/10.1016/0006-291x(85)91818-2" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Serero1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Serero, S., Maire, P., Van Cong, N., Cohen-Haguenauer, O., Gross, M. S., Jegou-Foubert, C., de Tand, M. F., Kahn, A., Frezal, J.
|
|
<strong>Localization of the active gene of aldolase on chromosome 16, and two aldolase A pseudogenes on chromosomes 3 and 10.</strong>
|
|
Hum. Genet. 78: 167-174, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2828224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2828224</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2828224" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00278190" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Tolan1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tolan, D. R., Niclas, J., Bruce, B. D., Lebo, R. V.
|
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<strong>Evolutionary implications of the human aldolase-A, -B, -C, and -pseudogene chromosome locations.</strong>
|
|
Am. J. Hum. Genet. 41: 907-924, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3674018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3674018</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3674018" 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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</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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Joanna S. Amberger - updated : 3/6/2008
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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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Victor A. McKusick - updated : 6/19/1997<br>Moyra Smith - updated : 6/3/1996
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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 : 6/4/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mcolton : 05/01/2014
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 7/31/2009<br>ckniffin : 7/28/2009<br>carol : 4/14/2009<br>mgross : 3/6/2008<br>joanna : 3/6/2008<br>mgross : 3/17/2004<br>dkim : 7/17/1998<br>terry : 6/18/1998<br>alopez : 7/10/1997<br>jenny : 6/23/1997<br>mark : 6/19/1997<br>mark : 6/4/1996<br>carol : 6/3/1996<br>davew : 6/8/1994<br>warfield : 4/7/1994<br>carol : 4/6/1994<br>mimadm : 3/11/1994<br>supermim : 3/16/1992<br>carol : 1/27/1992
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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> 103850
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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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ALDOLASE A, FRUCTOSE-BISPHOSPHATE; ALDOA
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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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FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A<br />
|
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ALDOLASE A; ALDA<br />
|
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ALDOLASE 1<br />
|
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FRUCTOALDOLASE A
|
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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: ALDOA</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> 1187461004;
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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: 16p11.2
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|
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:30,064,279-30,070,420 </span>
|
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</em>
|
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</strong>
|
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<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
16p11.2
|
|
</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
Glycogen storage disease XII
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
611881
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
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</span>
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</h4>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. The enzyme is a tetramer of identical 40-kD subunits. Vertebrates have 3 aldolase isozymes, aldolases A, B (ALDOB; 612724), and C (ALDOC; 103870), which are distinguished by their electrophoretic and catalytic properties. The sequence of the aldolases around the active-site lysine is highly conserved in evolution. Mammalian tissues express aldolase isozymes in a well-characterized pattern. Developing embryo produces aldolase A, which continues to be expressed in many adult tissues, sometimes at much higher levels than in embryo. In adult muscle, aldolase A can be as much as 5% of total cellular protein. In adult liver, kidney, and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. In transformed liver cells, aldolase A replaces aldolase B (Rottmann et al., 1984). </p>
|
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</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
|
</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Electrophoretic variants of fructoaldolase were reported by Charlesworth (1972). </p><p>Sakakibara et al. (1985) cloned aldolase A from a human liver cDNA library. The deduced protein contains 363 amino acids. RNA blot analysis revealed a 1.6-kb ALDOA mRNA in skeletal muscle and a 1.7-kb ALDOA mRNA in liver and placenta. </p><p>Freemont et al. (1988) presented the complete amino acid sequence of human skeletal muscle fructose-bisphosphate aldolase, comprising 363 residues. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</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">
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<p>Izzo et al. (1988) found that the ALDOA gene spans 7.5 kb and contains 12 exons. It occurs as a single copy per haploid human genome. Eight exons containing the coding sequence were common to all mRNAs extracted from several mammalian sources. Four additional exons were identified in the 5-prime UTR: the first was contained in the ubiquitous mRNA, the second in the muscle-specific mRNA, and the third and fourth in a minor mRNA in human liver. S(1)-nuclease-protection analysis of the 5-prime end of mRNA from cultured fibroblasts, muscle, and hepatoma cell lines revealed 4 different transcription initiation sites. The presence of conventional sequences for 4 eukaryotic promoters was also demonstrated. The nucleotide similarities in the coding region and the intron-exon organization of aldolases A, B, and C confirmed that they arose from a common ancestral gene, with aldolase B diverging first. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Harris (1974) concluded that 3 loci determine aldolase. Cohen-Haguenauer et al. (1985) assigned aldolase A to chromosome 16, whereas Kukita et al. (1985) assigned it to chromosome 22. However, Kukita et al. (1987) mapped the ALDOA gene to chromosome 16 by 3 different methods: molecular hybridization to hybrid cell DNA, molecular hybridization to DNA of sorted metaphase chromosomes, and in situ hybridization. In situ hybridization indicated that the gene is located on the chromosome 16q22-q24 band. Serero et al. (1988) also assigned the aldolase A gene to chromosome 16 by Southern blot analysis of human genomic DNA with a cDNA probe. Aldolase A pseudogenes were found on chromosomes 3 and 10. The map location of the 3 aldolase genes and the aldolase pseudogene (see 612724) is of considerable interest from the point of view of chromosome evolution. The 4 genes are found on 2 pairs of morphologically similar chromosomes, 9 and 10, and 16 and 17. These homeologous (i.e., of similar origin) chromosome pairs may have arisen from 1 or 2 tetraploidization events (Comings, 1972; Ohno, 1973). As predicted by the chromosomal locations, the coding sequences of the expressed aldolase A and C genes on chromosomes 16 and 17, respectively, are more homologous to each other than either of them is to the expressed aldolase B gene on chromosome 9. </p><p>Amberger (2008) mapped the ALDOA gene to chromosome 16p11.2 based on an alignment of the ALDOA sequence (GenBank M11560) with the genomic sequence (build 36.2).</p>
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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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</h4>
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<span class="mim-text-font">
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<p>Kishi et al. (1987) studied a patient with red cell aldolase deficiency, or glycogen storage disease XII (GSD12; 611881), and identified a mutation in the ALDOA gene that resulted in an asp128-to-gly (D128G; 103850.0001) substitution in the protein. The patient's enzyme from red cells and from cultured lymphoblastoid cells was highly thermolabile, and the enzyme expressed in E. coli was likewise thermolabile. The parents had intermediate levels of red cell aldolase A. Southern blot analysis of genomic DNA showed that the patient was homozygous for a mutation that was heterozygous in both parents. </p><p>In a boy with aldolase A deficiency, Kreuder et al. (1996) identified a homozygous germline mutation in the ALDOA gene that resulted substitution of a negatively charged glutamic acid with a positively charged lysine at the highly conserved residue 206 (E206L; 103850.0002). The affected residue is highly conserved within the subunit interface region. </p>
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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>2 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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<h4>
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<span class="mim-font">
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<strong>.0001 GLYCOGEN STORAGE DISEASE XII</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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ALDOA, ASP128GLY
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<br />
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SNP: rs121909533,
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ClinVar: RCV000019808
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<span class="mim-text-font">
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<p>In a patient with red cell aldolase deficiency, or glycogen storage disease XII (GSD12; 611881), Kishi et al. (1987) identified an A-G transition at nucleotide 386 in the codon for the 128th amino acid, leading to a change from aspartic acid (GAU) to glycine (GGU) (D128G) in the aldolase protein. The patient's enzyme from red cells and from cultured lymphoblastoid cells was highly thermolabile, and the enzyme expressed in E. coli was likewise thermolabile. Since asp128 is conserved in aldolase A, B (612724), and C (103870) of eukaryotes, including Drosophila, this residue likely has a crucial role in maintaining the correct spatial structure or in performing the catalytic function of the enzyme. The parents had intermediate levels of red cell aldolase A. The change in the aspartic acid codon extinguished an Fok1 restriction site (GGATG to GGGTG). Southern blot analysis of genomic DNA showed that the patient was homozygous for a mutation that was heterozygous in both parents. </p>
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</span>
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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 GLYCOGEN STORAGE DISEASE XII</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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ALDOA, GLU206LYS
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<br />
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SNP: rs121909534,
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ClinVar: RCV000019809
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</span>
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<div>
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<span class="mim-text-font">
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<p>Kreuder et al. (1996) described a 4 1/2-year-old boy with predominantly myopathic symptoms of aldolase A deficiency (GSD12; 611881) due to substitution of a single amino acid within the subunit interface most essential for the tetrameric structure of the enzyme. The patient showed muscle weakness and premature muscle fatigue. He was unable to walk for more than 10 minutes or climb more than 20 steps at a time. Several unexplained episodes of jaundice and anemia required blood transfusions during the first year of life. The parents were healthy and nonconsanguineous. The patient showed slight jaundice, diminished muscle mass, reduced muscle tone, and proximal muscle weakness. The liver and spleen were somewhat enlarged. Creatine kinase was markedly elevated in the blood of this patient, and several muscle enzymes, as well as serum bilirubin, were increased. Codon 206 of the ALDOA gene was found to have a homozygous transition from GAG (glu) to AAG (lys) (E206K). The authors noted that a glutamate is present in all human aldolases at position 206 of the enzyme. Both parents and a healthy brother were heterozygous for the mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Penhoet et al. (1966); Tolan et al. (1987)
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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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Amberger, J. S.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 3/6/2008.
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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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Charlesworth, D.
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<strong>Starch-gel electrophoresis of four enzymes from human red blood cells: glyceraldehyde-3-phosphate dehydrogenase, fructoaldolase, glyoxalase II and sorbitol dehydrogenase.</strong>
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Ann. Hum. Genet. 35: 477-484, 1972.
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[PubMed: 5073693]
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[Full Text: https://doi.org/10.1111/j.1469-1809.1957.tb01873.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Cohen-Haguenauer, O., Van Cong, N., Mennecier, F., Kahn, A., Frezal, J.
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<strong>The human aldolase A gene is on chromosome 16.(Abstract)</strong>
|
|
Cytogenet. Cell Genet. 40: 605, 1985.
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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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Comings, D. E.
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<strong>Evidence of ancient tetraploidy and conservation of linkage groups in mammalian chromosomes.</strong>
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Nature 238: 455-457, 1972.
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[PubMed: 4561854]
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[Full Text: https://doi.org/10.1038/238455a0]
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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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Freemont, P. S., Dunbar, B., Fothergill-Gilmore, L. A.
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<strong>The complete amino acid sequence of human skeletal-muscle fructose-bisphosphate aldolase.</strong>
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Biochem. J. 249: 779-788, 1988.
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[PubMed: 3355497]
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[Full Text: https://doi.org/10.1042/bj2490779]
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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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Harris, H.
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<strong>Personal Communication.</strong>
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London, England 1974.
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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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Izzo, P., Costanzo, P., Lupo, A., Rippa, E., Paolella, G., Salvatore, F.
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<strong>Human aldolase A gene: structural organization and tissue-specific expression by multiple promoters and alternate mRNA processing.</strong>
|
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Europ. J. Biochem. 174: 569-578, 1988.
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[PubMed: 3391172]
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[Full Text: https://doi.org/10.1111/j.1432-1033.1988.tb14136.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kishi, H., Mukai, T., Hirono, A., Fujii, H., Miwa, S., Hori, K.
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<strong>Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation.</strong>
|
|
Proc. Nat. Acad. Sci. 84: 8623-8627, 1987.
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[PubMed: 2825199]
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[Full Text: https://doi.org/10.1073/pnas.84.23.8623]
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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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Kreuder, J., Borkhardt, A., Repp, R., Pekrun, A., Gottsche, B., Gottschalk, U., Reichmann, H., Schachenmayr, W., Schlegel, K., Lampert, F.
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|
<strong>Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A.</strong>
|
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New Eng. J. Med. 334: 1100-1104, 1996.
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[PubMed: 8598869]
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[Full Text: https://doi.org/10.1056/NEJM199604253341705]
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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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Kukita, A., Yoshida, M. C., Fukushige, S., Sakakibara, M., Joh, K., Mukai, T., Hori, K.
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<strong>Molecular gene mapping of human aldolase A (ALDOA) gene to chromosome 16.</strong>
|
|
Hum. Genet. 76: 20-26, 1987.
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[PubMed: 3570299]
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[Full Text: https://doi.org/10.1007/BF00283044]
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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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Kukita, A., Yoshida, M. C., Sakakibara, M., Mukai, T., Hori, K.
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<strong>Molecular gene mapping of the structural gene for human aldolase A (ALDOA) to chromosome 22.(Abstract)</strong>
|
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Cytogenet. Cell Genet. 40: 674, 1985.
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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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Ohno, S.
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<strong>Ancient linkage groups and frozen accidents.</strong>
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Nature 244: 259-262, 1973.
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[PubMed: 4200792]
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[Full Text: https://doi.org/10.1038/244259a0]
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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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Penhoet, E., Rajkumar, T., Rutter, W. J.
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<strong>Multiple forms of fructose diphosphate aldolase in mammalian tissues.</strong>
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Proc. Nat. Acad. Sci. 56: 1275-1282, 1966.
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[PubMed: 5230152]
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[Full Text: https://doi.org/10.1073/pnas.56.4.1275]
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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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Rottmann, W. H., Tolan, D. R., Penhoet, E. E.
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<strong>Complete amino acid sequence for human aldolase B derived from cDNA and genomic clones.</strong>
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Proc. Nat. Acad. Sci. 81: 2738-2742, 1984.
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[PubMed: 6585824]
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[Full Text: https://doi.org/10.1073/pnas.81.9.2738]
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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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Sakakibara, M., Mukai, T., Hori, K.
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<strong>Nucleotide sequence of a cDNA clone for human aldolase: a messenger RNA in the liver.</strong>
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Biochem. Biophys. Res. Commun. 131: 413-420, 1985.
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[PubMed: 3840020]
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[Full Text: https://doi.org/10.1016/0006-291x(85)91818-2]
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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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Serero, S., Maire, P., Van Cong, N., Cohen-Haguenauer, O., Gross, M. S., Jegou-Foubert, C., de Tand, M. F., Kahn, A., Frezal, J.
|
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<strong>Localization of the active gene of aldolase on chromosome 16, and two aldolase A pseudogenes on chromosomes 3 and 10.</strong>
|
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Hum. Genet. 78: 167-174, 1988.
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[PubMed: 2828224]
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[Full Text: https://doi.org/10.1007/BF00278190]
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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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Tolan, D. R., Niclas, J., Bruce, B. D., Lebo, R. V.
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<strong>Evolutionary implications of the human aldolase-A, -B, -C, and -pseudogene chromosome locations.</strong>
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Am. J. Hum. Genet. 41: 907-924, 1987.
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[PubMed: 3674018]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Joanna S. Amberger - updated : 3/6/2008<br>Victor A. McKusick - updated : 6/19/1997<br>Moyra Smith - updated : 6/3/1996
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</span>
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</div>
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</div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
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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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mcolton : 05/01/2014<br>carol : 7/31/2009<br>ckniffin : 7/28/2009<br>carol : 4/14/2009<br>mgross : 3/6/2008<br>joanna : 3/6/2008<br>mgross : 3/17/2004<br>dkim : 7/17/1998<br>terry : 6/18/1998<br>alopez : 7/10/1997<br>jenny : 6/23/1997<br>mark : 6/19/1997<br>mark : 6/4/1996<br>carol : 6/3/1996<br>davew : 6/8/1994<br>warfield : 4/7/1994<br>carol : 4/6/1994<br>mimadm : 3/11/1994<br>supermim : 3/16/1992<br>carol : 1/27/1992
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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