Article
Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France.
Journal of internal medicine - 1 Sept 1997
Nordmann Y, Puy H, Da Silva V, Simonin S, Robreau A M, Bonaiti C, Phung L N, Deybach J C
Abstract excerpt
OBJECTIVES: Acute intermittent porphyria (AIP) is an autosomal dominant disorder resulting from a 50% deficiency in porphobilinogen deaminase (PBG deaminase). The true prevalence in the general population of mutations in the PBG deaminase gene capable of causing AIP is unknown. However, it is important to identify asymptomatic carriers of AIP mutations because all are at risk to have an acute attack. DESIGN: We...
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