The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation

Journal of Trace Elements in Medicine and Biology - Tập 59 - Trang 126420 - 2020
Mariya S. Balashova1,2, Inna G. Tuluzanovskaya1, Oleg S. Glotov3,4,5, Andrey S. Glotov3,4,6, Yury A. Barbitoff6,7, Mikhail A. Fedyakov4,6, Diana A. Alaverdian4, Tatiana E. Ivashchenko3, Olga V. Romanova3,4, Andrey M. Sarana4,6, Sergey G. Scherbak4,6, Vladislav S. Baranov3,6, Marat I. Filimonov1, Anatoly V. Skalny1,8, Natalya A. Zhuchenko1, Tatiana M. Ignatova9,10, Aliy Y. Asanov1
1Sechenov First Moscow State Medical University, Moscow, Russia
2Center of Genetics and Reproductive Medicine «Genetico», Moscow, Russia
3D.O.Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia
4St.Petersburg State Health Care Establishment the City Hospital №40, St. Petersburg, Russia
5Saint-Petersburg State University, St.Petersburg, Russia
6Saint Petersburg State University, St. Petersburg, Russia
7Bioinformatics Institute, St. Petersburg, Russia
8Taipei Medical University, Taipei, Taiwan
9Center of Endosurgery and Lithotripsy (CELT), Moscow, Russia
10Burnasyan Federal Medical Biophysical Center of Federal Medical Biological Agency, Moscow, Russia

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