Article
Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin.
Scandinavian journal of clinical and laboratory investigation - 1 May 1997
Rosipal R, Puy H, Lamoril J, Martasek P, Nordmann Y, Deybach J C
Abstract excerpt
Acute intermittent porphyria (AIP) is an autosomally dominant inherited metabolic disorders caused by decreased activity of porphobilinogen deaminase, the third enzyme in the human heme biosynthetic pathway. We report here the first mutations in the human porphobilinogen deaminase gene in seven u...
Topics
- Aminolevulinic Acid
- Czech Republic
- Exons
- Genetic Testing
- Humans
- Hydroxymethylbilane Synthase
- Introns
- Mutation
- Porphobilinogen
- Porphyria, Acute Intermittent
- Slovakia