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Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease

✍ Scribed by Slavka Vrabelova; Ondrej Letocha; Marek Borsky; Libor Kozak


Book ID
116987652
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
438 KB
Volume
86
Category
Article
ISSN
1096-7192

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Mutational analysis of ATP7B and genotyp
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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