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

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...

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Veröffentlicht in:	European heart journal 2012-06, Vol.33 (11), p.1360-1366
Hauptverfasser:	MAHDI MOTAZACKER, Mohammad, PIRRUCCELLO, James, ZELCER, Noam, KATHIRESAN, Sekar, FOUCHIER, Sigrid W, HUIJGEN, Roetand, DO, Ron, GABRIEL, Stacey, PETER, Jorge, ATBERT KUIVENHOVEN, Jan, DEFESCHE, Joep C, KASTELEIN, John J. P, KEES HOVINGH, G
Format:	Artikel
Sprache:	eng
Schlagworte:	Apolipoproteins B - genetics Biological and medical sciences Cardiology. Vascular system Disorders of blood lipids. Hyperlipoproteinemia Exome - genetics Female Genetic Linkage - genetics Genetic Testing - methods Humans Hyperlipoproteinemia Type II - genetics Lipoproteins, LDL - genetics Male Medical sciences Metabolic diseases Mutation - genetics Pedigree Proprotein Convertase 9 Proprotein Convertases - genetics Sequence Analysis, DNA - methods Serine Endopeptidases - genetics
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