Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations.

@article{Kotze1993PhenotypicVA,
  title={Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations.},
  author={Maritha J. Kotze and Willem J. S. de Villiers and K Steyn and J A Kriek and Adrian David Marais and E. Langenhoven and Juliana Silva Herbert and J F Graadt van Roggen and Deneys R. van der Westhuyzen and Gerhard A. Coetzee},
  journal={Arteriosclerosis and thrombosis : a journal of vascular biology},
  year={1993},
  volume={13 10},
  pages={1460-8}
}
Two common founder-related gene mutations that affect the low-density lipoprotein receptor (LDLR) are responsible for approximately 80% of familial hypercholesterolemia (FH) in South African Afrikaners. The FH Afrikaner-1 (FH1) mutation (Asp206-->Glu) in exon 4 results in defective receptors with approximately 20% of normal activity, whereas the FH Afrikaner-2 (FH2) mutation (Val408-->Met) in exon 9 completely abolishes LDLR activity (< 2% normal activity). We analyzed the contribution of these… CONTINUE READING