Article
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.
Human mutation - 1 Apr 2009
Abifadel Marianne, Rabès Jean-Pierre, Devillers Martine, Munnich Arnold, Erlich Danièle, Junien Claudine, Varret Mathilde, Boileau Catherine
Abstract excerpt
Hypercholesterolemia is one of the major causes of coronary heart disease (CHD). The genes encoding the low-density lipoprotein receptor and its ligand apolipoprotein B, have been the two genes classically implicated in autosomal dominant hypercholesterolemia (ADH). Our discovery in 2003 of the first mutations of the proprotein convertase subtilisin kexin 9 gene (PCSK9) causing ADH shed light on an unknown actor...
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