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Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene

✍ Scribed by M. Méndez; P. Poblete-Gutiérrez; M. García-Bravo; T. Wiederholt; M.J. Morán-Jiménez; H.F. Merk; M.C. Garrido-Astray; J. Frank; A. Fontanellas; R. Enríquez de Salamanca


Book ID
108669565
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
195 KB
Volume
157
Category
Article
ISSN
0007-0963

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Seven novel point mutations in the uropo
✍ M.D. Cappellini; F. Martinez di Montemuros; D. Tavazzi; S. Fargion; A. Pizzuti; 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 89 KB 👁 1 views

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,