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3.066 WILSON'S DISEASE IN SOUTHERN BRAZIL: MUTATIONAL ANALYSIS, GENOTYPE-PHENOTYPE CORRELATION AND DESCRIPTION OF TWO NOVEL MUTATIONS IN THE ATP7B GENE

✍ Scribed by H.A.G. Teive; R.S. De Bem; R.P. Munhoz; S. Raskin; D. Muzillo; M.M. Deguti; E.L.R. Cançado; T.F. Araújo; M.C. Nakhle; E.R. Barbosa


Book ID
117755169
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
60 KB
Volume
18
Category
Article
ISSN
1353-8020

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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