" /> LDLR wt Allele - CISMeF





Preferred Label : LDLR wt Allele;

NCIt synonyms : FHC; Familial Hypercholesterolemia Gene; LDLR; FH; LDLCQ2; Low Density Lipoprotein Receptor (Familial Hypercholesterolemia) Gene; Low Density Lipoprotein Receptor wt Allele;

NCIt definition : Human LDLR wild-type allele is located in the vicinity of 19p13.3 and is approximately 44 kb in length. This allele, which encodes low-density lipoprotein receptor protein, is involved in cholesterol biosynthesis. Mutations in the gene result in autosomal dominant disorder, familial hypercholesterolemia.;

GenBank Accession Number : NM_000527;

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15/05/2024


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