Article
Evidence for an ancestral founder of the common R116W mutation in the hydroxymethylbilane synthase gene in acute intermittent porphyria in The Netherlands.
Cellular and molecular biology (Noisy-le-Grand, France) - 1 Jul 2009
de Rooij F W M, Kavelaars F G, Koole-Lesuis H, Wilson J H P
Abstract excerpt
INTRODUCTION: Acute intermittent porphyria (AIP), the most common acute hepatic porphyria, is an autosomal dominant inborn disorder of heme biosynthesis caused by mutations in the porphobilinogen deaminase (PBGd) gene. The prevalence of AIP in Europe is estimated as 1/10.000-1/20.000. The majorit...
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