Human mutations affecting the low density lipoprotein pathway.
D002478:Cells, Cultured; D005347:Fibroblasts / Q000378:metabolism; D014644:Genetic Variation; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006903:Hydroxymethylglutaryl CoA Reductases / Q000378:metabolism; D006937:Hypercholesterolemia / Q000097:blood / Q000235:genetics; D008077:Lipoproteins, LDL / Q000097:blood / Q000378:metabolism*; D009154:Mutation; D011955:Receptors, Drug / Q000378:metabolism
D008077:Lipoproteins, LDL; D011955:Receptors, Drug; D006903:Hydroxymethylglutaryl CoA Reductases