Familial hypercholesterolemia is an autosomal dominant disease defined at the molecular level mainly by the presence of mutations in the low-density lipoprotein receptor gene and is characterized by elevated low-density lipoprotein cholesterol, tendon xanthomas and increased risk of early cardiovascular disease...
Keywords: cholesterol, familial hypercholesterolemia, HMG-CoA, low-density lipoprotein receptor (LDL-R), statins, therapy
08/2005 | Clinical Chemical Laboratory Medicine, Walter de Gruyter