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Article

A novel pathogenic variant of the LDLR gene in the Asian population and its clinical correlation with familial hypercholesterolemia.

Molecular biology reports - 1 Jul 2012

Chahil J K, Lye S H, Bagali P G, Alex L

Abstract excerpt

Familial hypercholesterolemia (FH) is a disease implicated with defects in either, Low density lipoprotein receptor gene (LDLR), Apolipoprotein B-100 gene (APOB), the Proprotein convertase subtilisin/kexin type 9 gene (PCSK9) or other related genes of the lipid metabolism pathway. The general characterization of heterozygous FH is by elevated low-density lipoprotein (LDL) cholesterol and early-onset...

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Share to Cholesterol, LDL
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Protein Structure, Secondary

Share to Receptors, LDL

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Source

Identifiers

PMID: 22544571
DOI: 10.1007/s11033-012-1626-8

Genes

LDLR
APOB
PCSK9

Provenance

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