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Article

Genetic mutations in patients with possible familial hypercholesterolaemia in South East Scotland.

Scottish medical journal - 1 Aug 2012

Ho C K M, Stirling D, Hannant W, Walker S W

Abstract excerpt

Familial hypercholesterolaemia (FH) is one of the most common genetic disorders in the general population. Genetic testing of this condition is increasingly available in the UK to confirm its diagnosis, but the strategies of genetic testing vary. In this pilot study, we sought to investigate whether a strategy that focuses on the low-density lipoprotein receptor (LDLR) and apolipoprotein B (APOB) genes can...

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Source

Identifiers

PMID: 22859806
DOI: 10.1258/smj.2012.012020

Genes

APOB
LDLR

Variants

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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