Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators

S737F is a Cystic Fibrosis (CF) transmembrane conductance regulator (CFTR) missense variant. The aim of our study was to describe the clinical features of a cohort of individuals carrying this variant. In parallel, by exploiting ex vivo functional and molecular analyses on nasal epithelia derived fr...

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Detalles Bibliográficos
Autores principales: Terlizzi, Vito, Pesce, Emanuela, Capurro, Valeria, Tomati, Valeria, Lena, Mariateresa, Pastorino, Cristina, Bocciardi, Renata, Zara, Federico, Centrone, Claudia, Taccetti, Giovanni, Castellani, Carlo, Pedemonte, Nicoletta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10095403/
https://www.ncbi.nlm.nih.gov/pubmed/37047546
http://dx.doi.org/10.3390/ijms24076576

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10095403/
https://www.ncbi.nlm.nih.gov/pubmed/37047546
http://dx.doi.org/10.3390/ijms24076576

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