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Gene analysis of ATP7B in japanese patients with wilson's disease

✍ Scribed by Okada, Toshihide; Shiono, Yuhta; Hayashi, Hisao; Yano, Motoyoshi; Mabuchi, Hiroshi

Book ID
122932089
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
164 KB
Volume
118
Category
Article
ISSN
0016-5085

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The gene ATP7B responsible for Wilson's disease (WD) produces a protein which is predicted to be a copper-binding P-type ATPase, homologous to the Menkes disease gene (ATP7A). Various mutations of ATP7B have been identified. This study aimed to detect disease-causing mutations, to clarify their freq