Article
Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa.
Clinical genetics - 1 Jul 1998
Kotze M J, Peeters A V, Loubser O, Theart L, du Plessis L, Hayes V M, de Jong G, de Villiers J N, Lombard C J, Hansen P S, Raal F J
Abstract excerpt
Three founder-related low-density lipoprotein receptor (LDLR) gene mutations, D154N, D206E and V408M, cause familial hypercholesterolemia (FH) in approximately 90% of South African Afrikaners. Two hundred and twenty-one South African children, from 85 affected families, were screened for the specific mutation identified previously in the index case. Sixty boys and 56 girls were heterozygous for mutation D154N...
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