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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Detalles Bibliográficos
Autores principales: Petrova, Nika V., Kashirskaya, Nataliya Y., Krasovskiy, Stanislav A., Amelina, Elena L., Kondratyeva, Elena I., Marakhonov, Andrey V., Vasilyeva, Tatyana A., Voronkova, Anna Y., Sherman, Victoria D., Ginter, Evgeny K., Kutsev, Sergey I., Zinchenko, Rena A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7600230/
https://www.ncbi.nlm.nih.gov/pubmed/32992607
http://dx.doi.org/10.3390/genes11101137

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7600230/
https://www.ncbi.nlm.nih.gov/pubmed/32992607
http://dx.doi.org/10.3390/genes11101137

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