Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients

by Nika V Petrova, Nataliya Y Kashirskaya, Tatyana A Vasilyeva, Elenai I Kondratyeva, Andrey V Marakhonov, Milan Macek Jr, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko
Published 2020-03-01

Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients

by Nika V. Petrova, Nataliya Y. Kashirskaya, Stanislav A. Krasovskiy, Elena L. Amelina, Elena I. Kondratyeva, Andrey V. Marakhonov, Tatyana A. Vasilyeva, Anna Y. Voronkova, Victoria D. Sherman, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko
Published 2020-09-01

Analysis of <i>CFTR</i> Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients

by Nika V. Petrova, Nataliya Y. Kashirskaya, Tatyana A. Vasilyeva, Elena I. Kondratyeva, Elena K. Zhekaite, Anna Y. Voronkova, Victoria D. Sherman, Varvara A. Galkina, Eugeny K. Ginter, Sergey I. Kutsev, Andrey V. Marakhonov, Rena A. Zinchenko
Published 2020-05-01