Mutations of the low density lipoprotein receptor in familial hypercholesterolemia--analysis of 21 homozygotes.
Department of Etiology, National Cardiovascular Center Research Institute, Osaka.
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Yamamoto
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003327:Coronary Disease / Q000150:complications; D005260:Female; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000235:genetics*; D008297:Male; D009154:Mutation; D011973:Receptors, LDL / Q000235:genetics*
D011973:Receptors, LDL