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Acute Intermittent Porphyria: Heterogeneity of Mutations in the Hydroxymethylbilane Synthase Gene in Italy

✍ Scribed by F Martinez di Montemuros; E Di Pierro; G Biolcati; E Rocchi; E Bissolotti; D Tavazzi; G Fiorelli; M.D Cappellini


Book ID
115590186
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
169 KB
Volume
27
Category
Article
ISSN
1079-9796

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Molecular basis of acute intermittent po
✍ Kenneth H. Astrin; Robert J. Desnick πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 900 KB

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

Molecular analysis of the hydroxymethylb
✍ Franco Martinez di Montemuros; Elena Di Pierro; Silvia Fargion; Gianfranco Biolc πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 55 KB πŸ‘ 2 views

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.