Article
Genetic heterogeneity of autosomal dominant hypercholesterolemia.
Clinical genetics - 1 Jan 2008
Varret M, Abifadel M, Rabès J-P, Boileau C
Abstract excerpt
Autosomal dominant hypercholesterolemia (ADH) is characterized by isolated elevation of plasmatic low-density lipoprotein cholesterol associated with high risk of premature cardiovascular complications. More than 1000 mutations in the LDLR gene and 9 in the APOB gene have been implicated. We have shown further heterogeneity with the discovery of missense mutations in the PCSK9 gene resulting in ADH. Different...
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