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

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...

Full description

Bibliographic Details
Main Authors: Karina Kleinfelder, Elena Somenza, Alessia Farinazzo, Jessica Conti, Virginia Lotti, Roberta Valeria Latorre, Luca Rodella, Arianna Massella, Francesco Tomba, Marina Bertini, Claudio Sorio, Paola Melotti
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:International Journal of Molecular Sciences
Subjects:
rectal organoids
complex CFTR alleles
personalized medicine
CFTR modulators
Ussing chambers
FIS assay
Online Access:https://www.mdpi.com/1422-0067/24/6/5199

Internet

https://www.mdpi.com/1422-0067/24/6/5199

Similar Items