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Physiological and pharmacological characterization of the N1303K Mutant CFTR

BACKGROUND: N1303K, one of the common, severe disease-causing mutations in the CFTR gene, causes both defective biogenesis and gating abnormalities of the CFTR protein. The goals of the present study are to quantitatively assess the gating defects associated with the N1303K mutation and its pharmaco...

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Publicado en:J Cyst Fibros
Autores principales: DeStefano, Samantha, Gees, Maarten, Hwang, Tzyh-Chang
Formato: Artigo
Lenguaje:Inglês
Publicado: 2018
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7008954/
https://ncbi.nlm.nih.gov/pubmed/29887518
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jcf.2018.05.011
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