Identification of a novel mutation in CFTR gene exon 8 (L375F) in a CUAVD phenotype.
Jézéquel
P
P
Chauvel
B
B
Le Treut
A
A
Le Gall
J Y
JY
David
V
V
Le Lannou
D
D
Blayau
M
M
D000328:Adult; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D014649:Vas Deferens / Q000002:abnormalities*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator