The CFTR Mutation c.3453G > C (D1152H) Confers an Anion Selectivity Defect in Primary Airway Tissue that Can Be Rescued by Ivacaftor

The CFTR Mutation c.3453G > C (D1152H) Confers an Anion Selectivity Defect in Primary Airway Tissue that Can Be Rescued by Ivacaftor

The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variant, c.3453G > C (D1152H), is associated with mild Cystic Fibrosis (CF) disease, though there is considerable clinical variability ranging from no detectable symptoms to lung disease with early acquisition of <i>Pseudom...

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Bibliographic Details
Main Authors: Onofrio Laselva, Theo J. Moraes, Gengming He, Claire Bartlett, Ida Szàrics, Hong Ouyang, Tarini N. A. Gunawardena, Lisa Strug, Christine E. Bear, Tanja Gonska
Format: Article
Language:English
Published: MDPI AG 2020-05-01
Series:Journal of Personalized Medicine
Subjects:
cystic fibrosis
personalized medicine
D1152H
CFTR
VX-770
rare mutation
Online Access:https://www.mdpi.com/2075-4426/10/2/40

Internet

https://www.mdpi.com/2075-4426/10/2/40

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