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Article

Low density lipoprotein receptor mutations in South African homozygous familial hypercholesterolemic patients.

Arteriosclerosis (Dallas, Tex.) - 1 Jan 2000

van der Westhuyzen D R, Coetzee G A, Demasius I P, Harley E H, Gevers W, Baker S G, Seftel H C

Abstract excerpt

The binding and catabolism of low density lipoprotein (LDL) were studied in cultured skin fibroblasts and/or Epstein-Barr virus-transformed lymphoblastoid cells from 20 familial hypercholesterolemic (FH) homozygotes of 14 Afrikaner kindreds. Cells from available heterozygotes were also analyzed. Good resolution between the normal, heterozygote, and homozygote groups was obtained on the basis of these assays using...

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Identifiers

PMID: 6324732
DOI: 10.1161/01.atv.4.3.238

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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