A Splicing Mutation in Intron 16 of the Cystic Fibrosis Transmembrane Conductance Regulator Gene, Associated with Severe Disease, Is Common on Reunion Island

1996 ◽  
Vol 46 (3) ◽  
pp. 168-171 ◽  
Author(s):  
T. Bienvenu ◽  
F. Cartault ◽  
F. Lesure ◽  
M. Renouil ◽  
C. Beldjord ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Severe Disease ◽  
Splicing Mutation ◽  
Transmembrane Conductance Regulator ◽  
Reunion Island ◽  
Regulator Gene ◽  
Transmembrane Conductance ◽  
Réunion Island ◽  
Cystic Fibrosis Transmembrane

A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A → G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene

Genomics ◽  
1992 ◽  
Vol 12 (2) ◽  
pp. 417-418 ◽  
Author(s):  
Patrizia Ronchetto ◽  
Juan Jose Telleria Orriols ◽  
Pascale Fanen ◽  
Laura Cremonesi ◽  
Maurizio Ferrari ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Nonsense Mutation ◽  
Splicing Mutation ◽  
Transmembrane Conductance Regulator ◽  
Regulator Gene ◽  
Transmembrane Conductance ◽  
Cystic Fibrosis Transmembrane ◽  
Exon 19

Mutations of Cystic Fibrosis Transmembrane Conductance Regulator Gene Cause a Monocyte-Selective Adhesion Deficiency

2016 ◽  
Vol 193 (10) ◽  
pp. 1123-1133 ◽  
Author(s):  
Claudio Sorio ◽  
Alessio Montresor ◽  
Matteo Bolomini-Vittori ◽  
Sara Caldrer ◽  
Barbara Rossi ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Transmembrane Conductance Regulator ◽  
Regulator Gene ◽  
Transmembrane Conductance ◽  
Cystic Fibrosis Transmembrane
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