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Article

Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.

BMC medical genetics - 23 Jun 2014

Norsworthy Penny J, Vandrovcova Jana, Thomas Ellen R A, Campbell Archie, Kerr Shona M, Biggs Jennifer, Game Laurence, Soutar Anne K, Smith Blair H, Dominiczak Anna F, Porteous David J, Morris Andrew D, Scotland Generation, Aitman Timothy J

Abstract excerpt

BACKGROUND: Familial hypercholesterolaemia (FH) is a common Mendelian condition which, untreated, results in premature coronary heart disease. An estimated 88% of FH cases are undiagnosed in the UK. We previously validated a method for FH mutation detection in a lipid clinic population using next generation sequencing (NGS), but this did not address the challenge of identifying index cases in primary care where...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24956927
DOI: 10.1186/1471-2350-15-70
PMCID: PMC4083361

Genes

APOB
LDLR
PCSK9

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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