Mutation analysis and characterization o
✍
Lei Wan; Chang-Hai Tsai; Chin-Moo Hsu; Chin-Chang Huang; Chih-Chao Yang; Chiu-Ch
📂
Article
📅
2010
🏛
John Wiley and Sons
🌐
English
⚖ 443 KB
👁 1 views
Wilson disease is a copper metabolism disorder caused by mutations in ATP7B, a coppertransporting adenosine triphosphatase. A molecular diagnosis was performed on 135 patients with Wilson disease in Taiwan. We identified 36 different mutations, eight of which were novel: five missense mutations (Ser