Article
Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients.
Human heredity - 1 Jan 2002
Schneider-Yin Xiaoye, Hergersberg Martin, Goldgar David E, Rüfenacht Urszula B, Schuurmans Macé M, Puy Hervé, Deybach Jean-Charles, Minder Elisabeth I
Abstract excerpt
Acute intermittent porphyria (AIP) is a low-penetrant autosomal dominant disorder caused by mutations in the porphobilinogen deaminase gene (PBGD). Nearly 60% of all Swiss AIP patients carry a nonsense mutation W283X (G(7916)-->A). In France, the prevalence of W283X is <5%. To determine whether W283X was a founder mutation or originated from multiple de novo events, we studied 25 apparently unrelated W283X...
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