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Article

Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.

Clinical genetics - 1 Nov 2008

Wright W T, Heggarty S V, Young I S, Nicholls D P, Whittall R, Humphries S E, Graham C A

Abstract excerpt

Familial hypercholesterolaemia (FH) is a common single gene disorder, pre-disposing to cardiovascular disease, which is most commonly caused by mutations in the LDL-receptor (LDLR) gene. About 5% of patients carry the p.R3527Q (previously R3500Q) mutation in the apolipoprotein B (APOB) gene and 2% carry the p.D374Y mutation in the PCSK9 gene, but the lack of high-throughput methods make routine genetic diagnosis...

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Share to Apolipoproteins B
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hyperlipoproteinemia Type II

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Share to Oligonucleotide Array Sequence Analysis

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Source

Identifiers

PMID: 18700895
DOI: 10.1111/j.1399-0004.2008.01071.x

Genes

APOB
LDLR
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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