Familial hypercholesterolemia. A genetic regulatory defect in cholesterol metabolism.
D000429:Alcohol Oxidoreductases / Q000378:metabolism; D001665:Binding Sites; D002478:Cells, Cultured; D002784:Cholesterol / Q000378:metabolism*; D005347:Fibroblasts / Q000201:enzymology / Q000378:metabolism; D006579:Heterozygote; D006720:Homozygote; D006949:Hyperlipidemias / Q000235:genetics* / Q000378:metabolism* / Q000628:therapy; D008077:Lipoproteins, LDL / Q000502:physiology; D012867:Skin / Q000378:metabolism
D008077:Lipoproteins, LDL; D002784:Cholesterol; D000429:Alcohol Oxidoreductases