𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The novel compound heterozygous mutations, V434del and W666X, inWFS1gene causing the Wolfram syndrome in a Chinese family

✍ Scribed by Jie Hong; Yu-wen Zhang; Hui-Jie Zhang; Hui-ying Jia; Yu Zhang; Xiao-yi Ding; Dan-yang Zhou; Hui-ping Chen; Xiao-hua Jiang; Bin Cui; Xiao-ying Li; Guang Ning


Book ID
107571247
Publisher
Springer
Year
2009
Tongue
English
Weight
489 KB
Volume
35
Category
Article
ISSN
0969-711X

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Novel compound heterozygous mutations in
✍ Yu-hu Zhang; Bei-sha Tang; Ai-ling Zhao; Kun Xia; Zhi-gao Long; Ji-feng Guo; Sha 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 81 KB

## Abstract We investigated the presence of mutations in the pantothenate kinase (__PANK2__) gene in a 27‐year‐old male Chinese patient with atypical pantothenate kinase‐associated neurodegeneration (PKAN), formerly Hallervorden‐Spatz syndrome. Automated DNA sequence analyses revealed compound hete