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Molecular analysis of Wilson patients: Direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis

✍ Scribed by Muriel Bost; Guénaelle Piguet-Lacroix; François Parant; C.M.R. Wilson


Book ID
118482510
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
262 KB
Volume
26
Category
Article
ISSN
0946-672X

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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