Therapeutic benefit observed with the CFTR potentiator, ivacaftor, in a CF patient homozygous for the W1282X CFTR nonsense mutation

Published 2017 View Full Article

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Title
Therapeutic benefit observed with the CFTR potentiator, ivacaftor, in a CF patient homozygous for the W1282X CFTR nonsense mutation
Authors
Keywords
PTC mutations, W1282X, CFTR potentiator, Ivacaftor, Readthrough
Journal
Journal of Cystic Fibrosis
Volume 16, Issue 1, Pages 24-29
Publisher
Elsevier BV
Online
2016-10-07
DOI
10.1016/j.jcf.2016.09.005

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