Clinical and Functional Characteristics of the E92K CFTR Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis

The pathogenic variant E92K (c.274G > A) of the CFTR gene is rare in America and Europe, but it is common for people with cystic fibrosis from Russia and Turkey. We studied the effect of the E92K genetic variant on the CFTR function. The function of the CFTR channel was studied using the intestin...

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Detalles Bibliográficos
Autores principales: Kondratyeva, Elena, Melyanovskaya, Yuliya, Bulatenko, Nataliya, Davydenko, Ksenia, Filatova, Alexandra, Efremova, Anna, Skoblov, Mikhail, Bukharova, Tatiana, Sherman, Viktoriya, Voronkova, Anna, Zhekaite, Elena, Krasovskiy, Stanislav, Amelina, Elena, Petrova, Nika, Polyakov, Alexander, Adyan, Tagui, Starinova, Marina, Krasnova, Maria, Vasilyev, Andrey, Makhnach, Oleg, Zinchenko, Rena, Kutsev, Sergey, Gokdemir, Yasemin, Karadag, Bülent, Goldshtein, Dmitry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10093870/
https://www.ncbi.nlm.nih.gov/pubmed/37047318
http://dx.doi.org/10.3390/ijms24076351

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10093870/
https://www.ncbi.nlm.nih.gov/pubmed/37047318
http://dx.doi.org/10.3390/ijms24076351

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