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Article

Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations.

Atherosclerosis - 1 Nov 2016

Martin Rosalind, Latten Mark, Hart Padraig, Murray Helena, Bailie Deborah A, Crockard Martin, Lamont John, Fitzgerald Peter, Graham Colin A

Abstract excerpt

BACKGROUND AND AIMS: Familial hypercholesterolaemia (FH) leads to a lifelong increase in plasma LDL levels with subsequent increase in premature vascular disease. Early diagnosis and treatment is the key to effective management of this condition. This research aims to produce a simple and cost effective genetic test which could identify the majority (71%) of mutations causing FH in the UK and Ireland. METHODS:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27680772
DOI: 10.1016/j.atherosclerosis.2016.09.061

Genes

APOB
LDLR
PCSK9

Provenance

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