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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Pubblicato in:Genes (Basel)
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2020
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Article
Accesso online: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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