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• W2094174915 abstract "Wilson's disease (WD), an autosomal recessive disorder of copper transport with a broad range of genotypic and phenotypic characteristics, results from mutations in the ATP7B gene. Herein we report the results of mutation analysis of the ATP7B gene in a group of 118 Wilson disease families (236 chromosomes) prevalently of Italian origin. Using DNA sequencing we identified 83 disease-causing mutations. Eleven were novel, while twenty one already described mutations were identified in new populations in this study. In particular, mutation analysis of 13 families of Romanian origin showed a high prevalence of the p.H1069Q mutation (50%). Detection of new mutations in the ATP7B gene in new populations increases our capability of molecular analysis that is essential for early diagnosis and treatment of WD." @default.
• W2094174915 created "2016-06-24" @default.
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• W2094174915 date "2012-08-01" @default.
• W2094174915 modified "2023-10-17" @default.
• W2094174915 title "Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: Contribution to diagnosis" @default.
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• W2094174915 doi "https://doi.org/10.1016/j.mcp.2012.03.007" @default.
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