A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients.
Bienvenu
T
T
Laboratoire de Biochimie Génétique, CHU Cochin, Paris, France.
Hubert
D
D
Setbon
E
E
Dusser
D
D
Kaplan
J C
JC
Beldjord
C
C
D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014649:Vas Deferens / Q000002:abnormalities*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator