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

Journal of Cystic Fibrosis

Volumn 16, Issue 1, 2017, Pages 24-29

  Mutyam, Venkateshwar ^a   Libby, Emily Falk ^d   Peng, Ning ^a   Hadjiliadis, Denis ^e   Bonk, Michael ^e   Solomon, George M ^a,d   Rowe, Steven M ^a,b,c,d  

^a University of Alabama at Birmingham   (United States)

^b University of Alabama at Birmingham   (United States)

^c UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^d UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^e HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

CFTR potentiator; Ivacaftor; PTC mutations; Readthrough; W1282X

Indexed keywords

ANTIBIOTIC G 418; AZITHROMYCIN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DORNASE ALFA; DOXYCYCLINE; IVACAFTOR; SODIUM CHLORIDE; VANCOMYCIN; AMINOPHENOL DERIVATIVE; CFTR PROTEIN, HUMAN; CHLORIDE CHANNEL STIMULATING AGENT; QUINOLONE DERIVATIVE;

ADULT; ARTICLE; BODY MASS; CASE REPORT; CHLORIDE TRANSPORT; CYSTIC FIBROSIS; DISEASE EXACERBATION; DISEASE SEVERITY; DRUG EFFECT; FEMALE; FORCED EXPIRATORY VOLUME; HUMAN; IN VITRO STUDY; MISSENSE MUTATION; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NUTRITIONAL SUPPORT; PROTEIN EXPRESSION; DRUG EFFECTS; GENETICS; HOMOZYGOTE; ION TRANSPORT; STOP CODON; TREATMENT OUTCOME;

AMINOPHENOLS; CHLORIDE CHANNEL AGONISTS; CODON, NONSENSE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HOMOZYGOTE; HUMANS; ION TRANSPORT; QUINOLONES; TREATMENT OUTCOME;

EID: 85000399240     PISSN: 15691993     EISSN: 18735010     Source Type: Journal    
DOI: 10.1016/j.jcf.2016.09.005     Document Type: Article

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