title: [Receptor abnormalities and diseases. Mutations of the low density lipoprotein receptor in familial hypercholesterolemia--analysis of 21 homozygotes].
authors.forename: A
authors.initials: A
authors.lastname: Yamamoto
mesh_terms: D000293:Adolescent; D000328:Adult; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D005260:Female; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000378:metabolism*; D008297:Male; D009154:Mutation; D011973:Receptors, LDL / Q000096:biosynthesis / Q000235:genetics* / Q000378:metabolism
chemical_list: D011973:Receptors, LDL