Article
Evaluation of the Complex p.[Leu467Phe;Phe508del] CFTR Allele in the Intestinal Organoids Model: Implications for Therapy.
International journal of molecular sciences - 8 Sept 2022
Kondratyeva Elena, Efremova Anna, Melyanovskaya Yuliya, Voronkova Anna, Polyakov Alexander, Bulatenko Nataliya, Adyan Tagui, Sherman Viktoriya, Kovalskaia Valeriia, Petrova Nika, Starinova Marina, Bukharova Tatiana, Kutsev Sergei, Goldshtein Dmitry
Abstract excerpt
In the cohort of Russian patients with cystic fibrosis, the p.[Leu467Phe;Phe508del] complex allele (legacy name [L467F;F508del]) of the CFTR gene is understudied. In this research, we present the results of frequency evaluation of the [L467F;F508del] complex allele in the Russian Federation among patients with a F508del/F508del genotype, its effect on the clinical course of cystic fibrosis, the intestinal...
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