Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations
✍ Scribed by Manuel Méndez; María Victoria Rossetti; Sara Gómez-Abecia; María-Josefa Morán-Jiménez; Victoria Parera; Alcira Batlle; Rafael Enríquez de Salamanca
- Book ID
- 116989726
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 264 KB
- Volume
- 105
- Category
- Article
- ISSN
- 1096-7192
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
In this work, we describe seven novel molecular defects in the uroporphyrinogen decarboxylase gene responsible for familial porphyria cutanea tarda in Italian subjects with reduced erythrocyte URO-D activity. Four of these molecular abnormalities (R142Q, L161Q, S219F, P235S) are missense mutations,
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.