Article
Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations.
Arteriosclerosis and thrombosis : a journal of vascular biology - 1 Oct 1993
Kotze M J, De Villiers W J, Steyn K, Kriek J A, Marais A D, Langenhoven E, Herbert J S, Graadt Van Roggen J F, Van der Westhuyzen D R, Coetzee G A
Abstract excerpt
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...
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