Familial hypercholesterolemia: A genetic defect in the low-density lipoprotein receptor.
D001665:Binding Sites; D002478:Cells, Cultured; D002648:Child; D002784:Cholesterol / Q000097:blood; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006903:Hydroxymethylglutaryl CoA Reductases / Q000378:metabolism; D006937:Hypercholesterolemia / Q000201:enzymology / Q000235:genetics* / Q000378:metabolism; D008077:Lipoproteins, LDL / Q000097:blood / Q000378:metabolism*; D008954:Models, Biological; D009154:Mutation; D011485:Protein Binding; D011955:Receptors, Drug; D002785:Sterol O-Acyltransferase / Q000378:metabolism
D008077:Lipoproteins, LDL; D011955:Receptors, Drug; D002784:Cholesterol; D006903:Hydroxymethylglutaryl CoA Reductases; D002785:Sterol O-Acyltransferase