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0233 The genotype-phenotype correlation in juvenile and adult forms of Alexander disease with GFAP mutation


Book ID
119466782
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
246 KB
Volume
238
Category
Article
ISSN
0022-510X

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Mutational analysis of ATP7B and genotyp
✍ Toshihide Okada; Yuta Shiono; Hisao Hayashi; Hiro Satoh; Takeshi Sawada; Ayako S πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 286 KB πŸ‘ 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