Use of fibroblast culture to diagnose and genotype familial hypercholesterolaemia.
D000293:Adolescent; D000328:Adult; D002478:Cells, Cultured; D002648:Child; D002784:Cholesterol / Q000096:biosynthesis / Q000378:metabolism*; D002788:Cholesterol Esters / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006903:Hydroxymethylglutaryl CoA Reductases / Q000378:metabolism*; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000378:metabolism; D008077:Lipoproteins, LDL / Q000378:metabolism; D008297:Male
D002788:Cholesterol Esters; D008077:Lipoproteins, LDL; D002784:Cholesterol; D006903:Hydroxymethylglutaryl CoA Reductases