Article
Proprotein convertase subtilisin kexin 9: the third locus implicated in autosomal dominant hypercholesterolemia.
Current opinion in lipidology - 1 Apr 2005
Maxwell Kara N, Breslow Jan L
Abstract excerpt
PURPOSE OF REVIEW: Autosomal dominant hypercholesterolemia is a genetic disease in which patients have elevated LDL cholesterol levels and premature atherosclerosis. Mutations in the LDL receptor and its ligand apolipoprotein B are causative for autosomal dominant hypercholesterolemia, and the study of this pathway has been crucial to understanding LDL metabolism and receptor-mediated endocytosis in general....
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