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Acute intermittent porphyria – impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties

✍ Scribed by Dana Ulbrichova; Matous Hrdinka; Vladimir Saudek; Pavel Martasek

Book ID
111312878
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
431 KB
Volume
276
Category
Article
ISSN
1432-1327

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Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane synthase (HMB-synthase). AIP is an ecogenetic condition, with 1ife.threatening acute attacks pre

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Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: Report of four novel mutations
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Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the hydroxymethylbilane synthase (HMBS) gene coding for the third enzyme in the heme biosynthetic pathway. So far, more than 160 different mutations responsible for AIP have been identified in this gene.