Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel

The intricate nature of complex alleles presents challenges in the classification of CFTR gene mutations, encompassing potential disease-causing, neutral, or treatment-modulating effects. Notably, the complex allele [E217G;G509D] remains absent from international databases, with its pathogenicity ye...

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Detalles Bibliográficos
Autores principales: Kondratyeva, Elena, Melyanovskaya, Yuliya, Efremova, Anna, Krasnova, Mariya, Mokrousova, Diana, Bulatenko, Nataliya, Petrova, Nika, Polyakov, Alexander, Adyan, Tagui, Kovalskaia, Valeriia, Bukharova, Tatiana, Marakhonov, Andrey, Zinchenko, Rena, Zhekaite, Elena, Buhonin, Artem, Goldshtein, Dmitry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530926/
https://www.ncbi.nlm.nih.gov/pubmed/37761847
http://dx.doi.org/10.3390/genes14091705

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530926/
https://www.ncbi.nlm.nih.gov/pubmed/37761847
http://dx.doi.org/10.3390/genes14091705

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