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Mutations of the Wilson's disease gene in Austria-genotype/phenotype correlations and feasibility of mutation analysis

✍ Scribed by Ferenci, Peter; Polli, Claudia; Maier-Dobersberger, Theresia; Datz, Christian


Book ID
122051950
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
153 KB
Volume
118
Category
Article
ISSN
0016-5085

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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