Familial hypercholesterolemia: A genetic defect in the low-density lipoprotein receptor.

Binding Sites Cells, Cultured Child Cholesterol/blood Heterozygote Homozygote Humans Hydroxymethylglutaryl CoA Reductases/metabolism Hypercholesterolemia/enzymology,genetics,metabolism Lipoproteins, LDL/blood,metabolism Models, Biological Mutation Protein Binding Receptors, Drug Sterol O-Acyltransferase/metabolism

Lipoproteins, LDL Receptors, Drug Cholesterol Hydroxymethylglutaryl CoA Reductases Sterol O-Acyltransferase