Functional activity of the CFTR channel in a patient with the [L467F;F508del]/W1310X genotype

M. G. Krasnova; D. O. Mokrousova; A. S. Efremova; Yu. L. Melyanovskaya; V. D. Sherman; T. B. Bukharova; D. V. Goldshtein

PULMONOLOGIYA
Russian Pulmonology Journal

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

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Krasnova M.G., Mokrousova D.O., Efremova A.S., Melyanovskaya Yu.L., Sherman V.D., Bukharova T.B., Goldshtein D.V. Functional activity of the CFTR channel in a patient with the [L467F;F508del]/W1310X genotype. PULMONOLOGIYA. 2024;34(2):264-270. (In Russ.) https://doi.org/10.18093/0869-0189-2024-34-2-264-270

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

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About the Authors

M. G. Krasnova
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation
Russian Federation

Maria G. Krasnova, Postgraduate Student, Junior Researcher, Stem Cell Genetics Laboratory

ul. Moskvorechye 1, Moscow, 115522

D. O. Mokrousova
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation
Russian Federation

Diana O. Mokrousova, Laboratory Researcher, Stem Cell Genetics Laborator

ul. Moskvorechye 1, Moscow, 115522

A. S. Efremova
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation
Russian Federation

Anna S. Efremova, Candidate of Biology, Leading Researcher, Stem Cell Genetics Laboratory

ul. Moskvorechye 1, Moscow, 115522

Yu. L. Melyanovskaya
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation; State Budgetary Healthcare Institution of the Moscow region “Research Clinical Institute of Childhood”, Healthcare Ministry of Moscow Region
Russian Federation

Yuliya L. Melyanovskaya, Researcher, Scientific and Clinical Department of Cystic Fibrosis, Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation; Researcher, Scientific and Clinical Department of Cystic Fibrosis, State Budgetary Healthcare Institution of the Moscow region “Research Clinical Institute of Childhood”, Healthcare Ministry of Moscow Region

ul. Moskvorechye 1, Moscow, 115522,

ul. Kominterna 124A, build. 1, Moskovskaya obl., Mytishchi, 141009

V. D. Sherman
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation
Russian Federation

Viktoriya D. Sherman, Candidate of Medicine, Leading Researcher, Research and Clinical Division of Cystic Fibrosis

ul. Moskvorechye 1, Moscow, 115522

T. B. Bukharova
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation
Russian Federation

Tatiana B. Bukharova, Candidate of Biology, Leading Researcher, Stem Cell Genetics Laboratory

ul. Moskvorechye 1, Moscow, 115522

D. V. Goldshtein
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation
Russian Federation

Dmitry V. Goldshtein, Doctor of Biology Professor, Head of the Stem Cell Genetics Laboratory

ul. Moskvorechye 1, Moscow, 115522

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