Biochemical genetics of LDL receptor mutations in familial hypercholesterolemia.
D000483:Alleles; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics* / Q000378:metabolism; D007700:Kinetics; D008077:Lipoproteins, LDL / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009154:Mutation; D010375:Pedigree; D011956:Receptors, Cell Surface / Q000235:genetics* / Q000378:metabolism; D011973:Receptors, LDL
D008077:Lipoproteins, LDL; D011956:Receptors, Cell Surface; D011973:Receptors, LDL