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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Détails bibliographiques
Publié dans:Genes (Basel)
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: MDPI 2020
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7600230/
https://ncbi.nlm.nih.gov/pubmed/32992607
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11101137
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