scholarly journals Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene

2003 ◽  
Vol 12 (16) ◽  
pp. 2031-2040 ◽  
Author(s):  
I. Aznarez
Keyword(s):  
Cystic Fibrosis ◽  
Transmembrane Conductance Regulator ◽  
Regulator Gene ◽  
Splice Sites ◽  
Transmembrane Conductance ◽  
Exonic Splicing Enhancer ◽  
Cryptic Splice Sites ◽  
Cystic Fibrosis Transmembrane ◽  
Splicing Enhancer

scholarly journals Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

2007 ◽  
Vol 9 (4) ◽  
pp. 556-560 ◽  
Author(s):  
Feras M. Hantash ◽  
Joy B. Redman ◽  
Dana Goos ◽  
Anja Kammesheidt ◽  
Matthew J. McGinniss ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Transmembrane Conductance Regulator ◽  
Regulator Gene ◽  
Transmembrane Conductance ◽  
Cystic Fibrosis Transmembrane

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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