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Article

Genetic analysis of familial hypercholesterolaemia in Western Australia.

Atherosclerosis - 1 Oct 2012

Hooper Amanda J, Nguyen Lan T, Burnett John R, Bates Timothy R, Bell Damon A, Redgrave Trevor G, Watts Gerald F, van Bockxmeer Frank M

Abstract excerpt

OBJECTIVE: To determine the spectrum of mutations associated with familial hypercholesterolaemia (FH) and their detection rate in the FH Western Australia (FHWA) Program. METHODS: Mutation testing of the LDLR gene, plus select regions in APOB and PCSK9, was performed in the first 343 patients considered to be phenotypic index cases of FH and classified on the basis of the Dutch Lipid Clinic Network Criteria...

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Topics

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Share to Apolipoproteins B
Share to Cholesterol, LDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperlipoproteinemia Type II

Share to Proprotein Convertase 9

Share to Proprotein Convertases

Share to Receptors, LDL

Share to RNA Splice Sites

Share to Western Australia

Source

Identifiers

PMID: 22883975
DOI: 10.1016/j.atherosclerosis.2012.07.030

Genes

LDLR
APOB
PCSK9

Variants

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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