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

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

The pathogenic variant E92K (c.274G > A) of the <i>CFTR</i> 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...

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Bibliographic Details
Main Authors: Elena Kondratyeva, Yuliya Melyanovskaya, Nataliya Bulatenko, Ksenia Davydenko, Alexandra Filatova, Anna Efremova, Mikhail Skoblov, Tatiana Bukharova, Viktoriya Sherman, Anna Voronkova, Elena Zhekaite, Stanislav Krasovskiy, Elena Amelina, Nika Petrova, Alexander Polyakov, Tagui Adyan, Marina Starinova, Maria Krasnova, Andrey Vasilyev, Oleg Makhnach, Rena Zinchenko, Sergey Kutsev, Yasemin Gokdemir, Bülent Karadag, Dmitry Goldshtein
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:International Journal of Molecular Sciences
Subjects:
cystic fibrosis (CF)
CFTR
E92K
CF Registry
intestinal current measurements (ICM)
intestinal organoids
Online Access:https://www.mdpi.com/1422-0067/24/7/6351

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https://www.mdpi.com/1422-0067/24/7/6351

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