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....
Topics
- Adolescent
- Adult
- Cell Transformation, Viral
- Child
- Female
- Fibroblasts
- Herpesvirus 4, Human
- Heterozygote
- Homozygote
- Humans
- Hyperlipoproteinemia Type II
- Lipids
- Lymphocytes
- Male
- Middle Aged
- Mutation
- Receptors, Cell Surface
- Receptors, LDL