CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor

CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor

The chloride channel dysfunction caused by deleterious cystic fibrosis transmembrane conductance regulator (CFTR) variants generally correlates with severity of cystic fibrosis (CF). However, 3 adults bearing the common severe variant p.Phe508del (legacy: F508del) and a deletion variant in an ivacaf...

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Bibliographic Details
Main Authors: Karen S. Raraigh, Kathleen C. Paul, Jennifer L. Goralski, Erin N. Worthington, Anna V. Faino, Stanley Sciortino, Yiting Wang, Melis A. Aksit, Hua Ling, Derek L. Osorio, Frankline M. Onchiri, Shivani U. Patel, Christian A. Merlo, Kristina Montemayor, Ronald L. Gibson, Natalie E. West, Amita Thakerar, Robert J. Bridges, David N. Sheppard, Neeraj Sharma, Garry R. Cutting
Format: Article
Language:English
Published: American Society for Clinical investigation 2022-03-01
Series:JCI Insight
Subjects:
Genetics
Online Access:https://doi.org/10.1172/jci.insight.148841

Internet

https://doi.org/10.1172/jci.insight.148841

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