Article
The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation.
Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) - 1 May 2020
Balashova Mariya S, Tuluzanovskaya Inna G, Glotov Oleg S, Glotov Andrey S, Barbitoff Yury A, Fedyakov Mikhail A, Alaverdian Diana A, Ivashchenko Tatiana E, Romanova Olga V, Sarana Andrey M, Scherbak Sergey G, Baranov Vladislav S, Filimonov Marat I, Skalny Anatoly V, Zhuchenko Natalya A, Ignatova Tatiana M, Asanov Aliy Y
Abstract excerpt
BACKGROUND: Wilson's disease (WD) is a rare inherited disorder caused by mutations in the ATP7B gene resulting in copper accumulation in different organs. However, data on ATP7B mutation spectrum in Russia and worldwide are insufficient and contradictory. The objective of the present study was estimation of the frequency of ATP7B gene mutations in the Russian population of WD patients. MATERIALS AND METHODS: 75...
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