Article
The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners.
Annals of human genetics - 1 May 1991
Kotze M J, Langenhoven E, Warnich L, du Plessis L, Retief A E
Abstract excerpt
Three different point mutations were recently identified in South African familial hypercholesterolaemics. These mutations result in the modification of recognition sites of specific restriction endonucleases. This study describes rapid methods for presymptomatic detection of these defects based on restriction enzyme analysis or allele-specific hybridization of enzymatically amplified genomic DNA. These methods...
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