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Genotype-phenotype correlation in Japanese patients with Wilson's disease

✍ Scribed by Okada, T.; Shiono, Y.; Takeda, Y.; Hayashi, H.; Hamano, H.; Suzuki, A.; Morise, T.; Mabuchi, H.; Yano, M.

Book ID
122429060
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
179 KB
Volume
114
Category
Article
ISSN
0016-5085

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Mutational analysis of ATP7B and genotyp
Mutational analysis of ATP7B and genotype–phenotype correlation in Japanese with Wilson's disease
✍ Toshihide Okada; Yuta Shiono; Hisao Hayashi; Hiro Satoh; Takeshi Sawada; Ayako S 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 286 KB 👁 2 views

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