Article
Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa.
Human genetics - 1 Oct 2002
Le Saux Olivier, Beck Konstanze, Sachsinger Christine, Treiber Carina, Göring Harald H H, Curry Katie, Johnson Eric W, Bercovitch Lionel, Marais Anna-Susan, Terry Sharon F, Viljoen Denis L, Boyd Charles D
Abstract excerpt
Pseudoxanthoma elasticum (PXE) is a heritable elastic tissue disorder recently shown to be attributable to mutations in the ABCC6 ( MRP6) gene. Whereas PXE has been identified in all ethnic groups studied to date, the prevalence of this disease in various populations is uncertain, although often assumed to be similar. A notable exception however is the prevalence of PXE among South African Afrikaners. A previous...
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