Article
New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.
Molecular and cellular probes - 1 Dec 1999
Gross U, Puy H, Doss M, Robreau A M, Nordmann Y, Doss M O, Deybach J C
Abstract excerpt
Acute intermittent porphyria (AIP) is a low-penetrant, autosomal dominant disorder caused by decreased activity of hydroxymethylbilane synthase (HMBS; MIM 176 000), the third enzyme in the heme biosynthetic pathway. We report the first molecular analysis of HMBS gene mutations in classical AIP patients of German origin. The HMBS gene of 5 German AIP patients was analysed by DGGE-screening and direct sequencing of...
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