Mutational analysis of ATP7B and genotyp
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Toshihide Okada; Yuta Shiono; Hisao Hayashi; Hiro Satoh; Takeshi Sawada; Ayako S
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Article
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2000
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John Wiley and Sons
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English
⚖ 286 KB
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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