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RNA Analysis of Consensus Sequence Splicing Mutations: Implications for the Diagnosis of Wilson Disease

✍ Scribed by Lovicu, Mario; Lepori, Maria Barbara; Incollu, Simona; Dessì, Valentina; Zappu, Antonietta; Iorio, Raffaele; D'Ambrosi, Mariangela; Pellecchia, Maria Teresa; Barone, Paolo; Maggiore, Giuseppe; De Virgiliis, Stefano; Cao, Antonio; Loudianos, Georgios

Book ID
125837320
Publisher
Mary Ann Liebert
Year
2009
Tongue
English
Weight
192 KB
Volume
13
Category
Article
ISSN
1945-0265

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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