Acute Intermittent Porphyria: Heterogeneity of Mutations in the Hydroxymethylbilane Synthase Gene in Italy
β 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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π SIMILAR VOLUMES
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
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.