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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
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 |
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