Article
High prevalence of the Cys282Tyr HFE mutation facilitates an improved diagnostic service for hereditary haemochromatosis in South Africa.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde - 1 Mar 1999
de Villiers J N, Hillerman R, de Jong G, Langenhoven E, Rossouw H, Marx M P, Kotze M J
Abstract excerpt
OBJECTIVE: The aim of the study was to investigate the molecular basis of hereditary haemochromatosis (HH) in South Africa in order to establish a reliable, cost-effective molecular diagnostic service for this potentially lethal disorder. DESIGN: DNA samples of patient and control groups were screened for two common haemochromatosis (HFE) gene mutations. The local frequencies of mutations C282Y and H63D were...
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