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Article

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Journal of medical genetics - 1 Oct 2012

Futema Marta, Plagnol Vincent, Whittall Ros A, Neil H Andrew W, Humphries Steve Eric

Abstract excerpt

BACKGROUND: Familial Hypercholesterolaemia (FH) is an autosomal dominant disease, caused by mutations in LDLR, APOB or PCSK9, which results in high levels of LDL-cholesterol (LDL-C) leading to early coronary heart disease. An autosomal recessive form of FH is also known, due to homozygous mutations in LDLRAP1. This study assessed the utility of an exome capture method and deep sequencing in FH diagnosis. METHODS:...

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Share to Apolipoproteins B
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperlipoproteinemia Type II

Share to Proprotein Convertase 9

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Share to Receptors, LDL

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Source

Open in PubMed Open full text

Identifiers

PMID: 23054246
DOI: 10.1136/jmedgenet-2012-101189
PMCID: PMC3475071

Genes

LDLR
APOB
LDLRAP1
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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