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 Pseudomonas aeru...

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Detalles Bibliográficos
Autores principales: Laselva, Onofrio, Moraes, Theo J., He, Gengming, Bartlett, Claire, Szàrics, Ida, Ouyang, Hong, Gunawardena, Tarini N. A., Strug, Lisa, Bear, Christine E., Gonska, Tanja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7354675/
https://www.ncbi.nlm.nih.gov/pubmed/32414100
http://dx.doi.org/10.3390/jpm10020040

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