Low-density lipoprotein receptor deficiency resulting in familial hypercholesterolaemia in a black man. A follow-up study.
The binding and catabolism of low-density lipoprotein (LDL) was measured in cultured skin fibroblasts and Epstein-Barr virus-transformed lymphoblastoid cells from a South African black man. On the basis of LDL receptor activity, the patient was classified as a familial hypercholesterolaemic homozygote of the LDL receptor-defective type.
D000328:Adult; D002478:Cells, Cultured; D005500:Follow-Up Studies; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics / Q000378:metabolism*; D008077:Lipoproteins, LDL / Q000378:metabolism; D008297:Male; D011973:Receptors, LDL / Q000235:genetics / Q000378:metabolism*
D008077:Lipoproteins, LDL; D011973:Receptors, LDL