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Article

Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

Circulation. Cardiovascular genetics - 1 Dec 2012

Ahmad Zahid, Adams-Huet Beverley, Chen Chiyuan, Garg Abhimanyu

Abstract excerpt

UNLABELLED: BACKGROUND- Autosomal dominant hypercholesterolemia (ADH), characterized by elevated plasma levels of low-density lipoprotein (LDL)-cholesterol, is caused by variants in at least 3 different genes: LDL receptor (LDLR), apolipoprotein B-100, and proprotein convertase subtilisin-like kexin type 9. There is paucity of data about the molecular basis of ADH among ethnic groups other than those of European...

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Source

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Identifiers

PMID: 23064986
DOI: 10.1161/CIRCGENETICS.112.963587
PMCID: PMC3774009

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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