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Article

Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia.

European heart journal - 1 Jun 2012

Motazacker Mohammad Mahdi, Pirruccello James, Huijgen Roeland, Do Ron, Gabriel Stacey, Peter Jorge, Kuivenhoven Jan Albert, Defesche Joep C, Kastelein John J P, Hovingh G Kees, Zelcer Noam, Kathiresan Sekar, Fouchier Sigrid W

Abstract excerpt

Aims Autosomal dominant hypercholesterolaemia (ADH) is a major risk factor for coronary artery disease. This disorder is caused by mutations in the genes coding for the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9). However, in 41% of the cases, we cannot find mutations in these genes. In this study, new genetic approaches were used for the...

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Apolipoproteins B
Exome
Genetic Linkage
Hyperlipoproteinemia Type II
Lipoproteins, LDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Proprotein Convertase 9

Proprotein Convertases

Serine Endopeptidases

Source

Identifiers

PMID: 22408029
DOI: 10.1093/eurheartj/ehs010

Genes

APOB
LDLR
PCSK9

Variants

Provenance

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