In silico analysis and theratyping of an ultra-rare CFTR genotype (W57G/A234D) in primary human rectal and nasal epithelial cells

Mutation targeted therapy in cystic fibrosis (CF) is still not eligible for all CF subjects, especially for cases carrying rare variants such as the CFTR genotype W57G/A234D (c.169T>G/c.701C>A). We performed in silico analysis of the effects of these variants on protein stability, which we fun...

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Detalles Bibliográficos
Autores principales: Kleinfelder, Karina, Lotti, Virginia, Eramo, Adriana, Amato, Felice, Lo Cicero, Stefania, Castelli, Germana, Spadaro, Francesca, Farinazzo, Alessia, Dell’Orco, Daniele, Preato, Sara, Conti, Jessica, Rodella, Luca, Tomba, Francesco, Cerofolini, Angelo, Baldisseri, Elena, Bertini, Marina, Volpi, Sonia, Villella, Valeria Rachela, Esposito, Speranza, Zollo, Immacolata, Castaldo, Giuseppe, Laudanna, Carlo, Sorsher, Eric J., Hong, Jeong, Joshi, Disha, Cutting, Garry, Lucarelli, Marco, Melotti, Paola, Sorio, Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10660498/
https://www.ncbi.nlm.nih.gov/pubmed/38026150
http://dx.doi.org/10.1016/j.isci.2023.108180

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