Article
A PCSK9 variant and familial combined hyperlipidaemia.
Journal of medical genetics - 1 Dec 2008
Abifadel M, Bernier L, Dubuc G, Nuel G, Rabès J-P, Bonneau J, Marques A, Marduel M, Devillers M, Munnich A, Erlich D, Varret M, Roy M, Davignon J, Boileau C
Abstract excerpt
BACKGROUND: Our discovery in 2003 of the first mutations of PCSK9 gene causing autosomal dominant hypercholesterolaemia (ADH) shed light on an unknown factor that strongly influences the level of circulating low density lipoprotein cholesterol (LDL-C). PCSK9 gain of function mutations cause hypercholesterolaemia by a reduction of LDL receptor levels, while PCSK9 loss of function variants are associated with a...
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