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Familial porphyria cutanea tarda in Spain: Characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation

✍ Scribed by Gómez-Abecia, Sara; Morán-Jiménez, María-Josefa; Ruiz-Casares, Eva; Henriques-Gil, Nuno; García-Pastor, Inmaculada; Garrido-Astray, María-Concepción; Enríquez de Salamanca, Rafael; Méndez, Manuel


Book ID
122817024
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
268 KB
Volume
522
Category
Article
ISSN
0378-1119

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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,