Clinical and genetic characteristics of rare pathogenic variants of the CFTR gene in Russian patients with cystic fibrosis

A. Yu. Voronkova; Yu. L. Melyanovskaya; N. V. Petrova; T. A. Adyan; E. K. Zhekaite; S. A. Krasovskiy; E. L. Amelina

PULMONOLOGIYA
Russian Pulmonology Journal

ISSN 0869-0189 (Print)
ISSN 2541-9617 (Online)

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Voronkova A.Yu., Melyanovskaya Yu.L., Petrova N.V., Adyan T.A., Zhekaite E.K., Krasovskiy S.A., Amelina E.L. Clinical and genetic characteristics of rare pathogenic variants of the CFTR gene in Russian patients with cystic fibrosis. PULMONOLOGIYA. 2021;31(2):148-158. (In Russ.) https://doi.org/10.18093/0869-0189-2021-31-2-148-158

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International.

ISSN 0869-0189 (Print)
ISSN 2541-9617 (Online)

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About the Authors

A. Yu. Voronkova
Federal State Budgetary Scientific Institution “Research Center for Medical Genetics”
Russian Federation

Anna Yu. Voronkova, Candidate of Medicine, Leading Researcher, Scientific and Clinical Department of Cystic Fibrosis.

ul. Moskvorech’e 1, Moscow, 1115478, Russia; tel.: (495) 111-03-03

Yu. L. Melyanovskaya
Federal State Budgetary Scientific Institution “Research Center for Medical Genetics”
Russian Federation

Yuliya L. Melyanovskaya, Researcher, Scientific and Clinical Department of Cystic Fibrosis, Associate Professor, Department of Genetics of Respiratory System Diseases.

ul. Moskvorech’e 1, Moscow, 1115478, Russia; tel.: (495) 324-20-24

N. V. Petrova
Federal State Budgetary Scientific Institution “Research Center for Medical Genetics”
Russian Federation

Nika V. Petrova, Doctor of Biology, Leading Researcher, Laboratory of Genetic Epidemiology.

ul. Moskvorech’e 1, Moscow, 1115478, Russia; tel.: (499) 320-60 90

T. A. Adyan
Federal State Budgetary Scientific Institution “Research Center for Medical Genetics”
Russian Federation

Tagui A. Adyan, Candidate of Medicine, DNA Diagnostics Laboratory.

ul. Moskvorech’e 1, Moscow, 1115478, Russia; tel.: (499) 324-87-72

E. K. Zhekaite
Federal State Budgetary Scientific Institution “Research Center for Medical Genetics”
Russian Federation

Elena K. Zhekaite, Candidate of Medicine, Аssistant, Department of Genetics of Respiratory System Diseases, Researcher, Department of Cystic Fibrosis.

ul. Moskvorech’e 1, Moscow, 1115478, Russia; tel.: (925) 367-32-55

S. A. Krasovskiy
Federal State Budgetary Scientific Institution “Research Center for Medical Genetics”; Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia
Russian Federation

Stanislav A. Krasovskiy, Candidate of Medicine, Senior Researcher, Cystic Fibrosis Laboratory; Senior Researcher, Scientific and Clinical Department of Cystic Fibrosis.

ul. Moskvorech’e 1, Moscow, 1115478, Russia; Orekhovyy bul’var 28, Moscow, 115682, Russia; tel.: (926) 273-76-34; SPIN: 3385-6489, Author ID: 688178

E. L. Amelina
Federal State Budgetary Scientific Institution “Research Center for Medical Genetics”; Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia
Russian Federation

Elena L. Amelina, Candidate of Medicine, Head of the Laboratory of Cystic Fibrosis.

ul. Moskvorech’e 1, Moscow, 1115478, Russia; Orekhovyy bul’var 28, Moscow, 115682, Russia; tel.: (495) 965-23-24

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