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

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

The goal was to study the phenotypic manifestations of c.3844T>C (p.Trp1282Arg, W1282R) variant, a CF-causing mutation, in patients from the Russian Federation. Clinical manifestations and complications (the age at CF diagnosis, sweat test, pancreatic status, lung function, microbial infection, b...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: MDPI AG 2020-09-01
Series:Genes
Subjects:
cystic fibrosis
c.3844T&gt
C (p.Trp1282Arg
W1282R) variant
Russian CF patients
clinical presentation
Online Access:https://www.mdpi.com/2073-4425/11/10/1137

Internet

https://www.mdpi.com/2073-4425/11/10/1137

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