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Evaluation of the Complex p.[Leu467Phe;Phe508del] CFTR Allele in the Intestinal Organoids Model: Implications for Therapy

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 pa...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9499621/
https://www.ncbi.nlm.nih.gov/pubmed/36142302
http://dx.doi.org/10.3390/ijms231810377