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Analysis of the new mutation T1288R of the Wilson's disease ATP7B gene in four generations of a family

✍ Scribed by L. Leggio; G. Loudianos; L. Abenavoli; A. Ferrulli; C. D'Angelo; L. Vonghia; A. Mirijello; N. Malandrino; E. Capristo; M.B. Lepori; G.L. Rapaccini; S. De Virgiliis; G. Addolorato; G. Gasbarrini


Book ID
119632055
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
227 KB
Volume
38
Category
Article
ISSN
1590-8658

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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