ГоловнаArchive of numbers2014Volume 22, issue 1(78)Molecular-genetic aspects of Wilson’s disease
Title of the article Molecular-genetic aspects of Wilson’s disease
Authors Voloshyn-Gaponov Ivan
In the section DIAGNOSTICS AND THERAPY OF NEUROLOGICAL DISORDERS
Year 2014 Issue Volume 22, issue 1(78) Pages 23-27
Type of article Scientific article Index UDK 616.8-056.7:616.36:575.1 Index BBK -
Abstract In the work the results of a family of hereditary analysis of 84 patients with Wilson‘s disease (WD), of which 20 patients was conducted molecular-genetic definition ATP7B gene mutations. It is shown that in Ukraine WD was mainly caused by a mutation His1069Gln in the ATP7B gene. Phenotypically Slavic (late) type WD was marked in 66.3 % of patients and the West (early) — in 33.7 % of patients in the WD.
Key words Wilson’s disease, genetics, mutation
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