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Article

The detection of heterozygous familial hypercholesterolemia in Ireland.

Advances in therapy - 1 May 2012

O'Kane Maurice J, Menown Ian B, Graham Ian, Maher Vincent, Tomkin Gerald, Nicholls Paul, Graham Colin

Abstract excerpt

Heterozygous familial hypercholesterolemia (HeFH) is an autosomal dominant condition with a population prevalence of 1 in 500, and is associated with significant cardiovascular morbidity and mortality. It may be caused by mutations in the low-density lipoprotein (LDL) receptor, apolipoprotein B100 (Apo B100), or proprotein convertase subtilisin/kexin type 9 (PCSK9) genes, with over 1,000 causative mutations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22610724
DOI: 10.1007/s12325-012-0021-0

Genes

PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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