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Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples

✍ Scribed by Olsson, Charlotta; Waldenström, Erik; Westermark, Kerstin; Landegren, Ulf; Syvänen, Ann-Christine


Book ID
110025058
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
93 KB
Volume
8
Category
Article
ISSN
1018-4813

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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