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Molecular analysis of the NDP gene in two families with Norrie disease

✍ Scribed by Rivera-Vega, M Refugio ;Chiñas-Lopez, Silvet ;Vaca, Ana Luisa Jimenez ;Arenas-Sordo, M Luz ;Kofman-Alfaro, Susana ;Messina-Baas, Olga ;Cuevas-Covarrubias, Sergio Alberto


Book ID
109339963
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
1018 KB
Volume
83
Category
Article
ISSN
1395-3907

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NDP gene mutations in 14 French families
✍ Ghislaine Royer; Sylvain Hanein; Valérie Raclin; Nadine Gigarel; Jean-Michel Roz 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 29 KB

Norrie disease is a rare X-inked recessive condition characterized by congenital blindness and occasionally deafness and mental retardation in males. This disease has been ascribed to mutations in the NDP gene on chromosome Xp11.1. Previous investigations of the NDP gene have identified largely sixt