Article
Clinical versus molecular diagnosis of heterozygous familial hypercholesterolaemia in the diverse South African population.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde - 1 Dec 2001
Vergotine J, Thiart R, Kotze M J
Abstract excerpt
OBJECTIVE: Familial hypercholesterolaemia (FH) is a common genetic disease characterised by strikingly elevated plasma cholesterol concentration, which can lead to premature coronary death if left untreated. In this study DNA diagnosis of FH, which allows detection before onset of clinical symptoms, was evaluated against biochemical parameters routinely used to identify subjects with FH. DESIGN: A...
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