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Molecular analysis of acute intermittent porphyria: mutation screening in 20 patients in Germany reveals 11 novel mutations

✍ Scribed by Léon von Brasch; Chuanbing Zang; Thomas Haverkamp; Horst Schlechte; Herbert Heckers; Petro E Petrides

Book ID
116303921
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
118 KB
Volume
32
Category
Article
ISSN
1079-9796

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Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: Report of four novel mutations
✍ Franco Martinez di Montemuros; Elena Di Pierro; Silvia Fargion; Gianfranco Biolc 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB 👁 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.