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
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Functional Characterization of Missense Mutations in ATP7B: Wilson Disease Mutation or Normal Variant?
β Scribed by John R. Forbes; Diane W. Cox
- Book ID
- 117852647
- Publisher
- American Society of Human Genetics
- Year
- 1998
- Tongue
- English
- Weight
- 660 KB
- Volume
- 63
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/302163
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