CFTR Modulators Rescue the Activity of CFTR in Colonoids Expressing the Complex Allele p.[R74W;V201M;D1270N]/dele22_24

An Italian, 46-year-old female patient carrying the complex allele p.[R74W;V201M;D1270N] in trans with CFTR dele22_24 was diagnosed at the Cystic Fibrosis (CF) Center of Verona as being affected by CF-pancreatic sufficient (CF-PS) in 2021. The variant V201M has unknown significance, while both of th...

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Detalles Bibliográficos
Autores principales: Kleinfelder, Karina, Somenza, Elena, Farinazzo, Alessia, Conti, Jessica, Lotti, Virginia, Latorre, Roberta Valeria, Rodella, Luca, Massella, Arianna, Tomba, Francesco, Bertini, Marina, Sorio, Claudio, Melotti, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048957/
https://www.ncbi.nlm.nih.gov/pubmed/36982273
http://dx.doi.org/10.3390/ijms24065199

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