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Letter

Nature Genetics 37, 161–165 (1 February 2005) | doi:10.1038/ng1509

Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9

Jonathan Cohen , Alexander Pertsemlidis , Ingrid K Kotowski , Randall Graham , Christine Kim Garcia & Helen H Hobbs

The low-density lipoprotein receptor (LDLR) prevents hypercholesterolemia and atherosclerosis by removing low-density lipoprotein (LDL) from circulation. Mutations in the genes encoding either LDLR or its ligand (APOB) cause severe hypercholesterolemia.