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ATP7b gene and Wilson's disease

✍ Scribed by S Santhosh; RV Shaji; CE Eapen; GM Chandy


Book ID
108949785
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
32 KB
Volume
19
Category
Article
ISSN
0815-9319

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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