Two CFTR mutations within codon 970 differently impact on the chloride channel functionality
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Title
Two CFTR mutations within codon 970 differently impact on the chloride channel functionality
Authors
Keywords
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Journal
HUMAN MUTATION
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2019-03-09
DOI
10.1002/humu.23741
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Note: Only part of the references are listed.- WS18.5 Evaluation of the contributions of splicing and gating defects to dysfunction of G970R-CFTR
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- (2016) J Stuart Elborn LANCET
- From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations
- (2016) Gudio Veit et al. MOLECULAR BIOLOGY OF THE CELL
- Progress in therapies for cystic fibrosis
- (2016) Kris De Boeck et al. Lancet Respiratory Medicine
- Searching for a cure for cystic fibrosis. A 25-year quest in a nutshell
- (2015) Barbara Bosch et al. EUROPEAN JOURNAL OF PEDIATRICS
- Origins of Cystic Fibrosis Lung Disease
- (2015) David A. Stoltz et al. NEW ENGLAND JOURNAL OF MEDICINE
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- (2014) Garry R. Cutting NATURE REVIEWS GENETICS
- Revertants, Low Temperature, and Correctors Reveal the Mechanism of F508del-CFTR Rescue by VX-809 and Suggest Multiple Agents for Full Correction
- (2013) Carlos M. Farinha et al. CHEMISTRY & BIOLOGY
- Rescuing Mutant CFTR: A Multi-task Approach to a Better Outcome in Treating Cystic Fibrosis
- (2013) Margarida D. Amaral et al. CURRENT PHARMACEUTICAL DESIGN
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- (2013) Tsukasa Okiyoneda et al. Nature Chemical Biology
- Gastrointestinal Complications of Cystic Fibrosis
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- Ivacaftor potentiation of multiple CFTR channels with gating mutations
- (2012) Haihui Yu et al. Journal of Cystic Fibrosis
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- (2011) F. Van Goor et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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- (2011) Gergely L. Lukacs et al. TRENDS IN MOLECULAR MEDICINE
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- (2009) A. Caputo et al. JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS
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- (2009) F. Van Goor et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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