Article
CFTR Modulators Rescue the Activity of CFTR in Colonoids Expressing the Complex Allele p.[R74W;V201M;D1270N]/dele22_24.
International journal of molecular sciences - 8 Mar 2023
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
Abstract excerpt
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 the other variants of this complex allele have variable clinical consequences, according to the CFTR2 database, with...
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