A novel splice mutation, 4006-1G>A, in intron 21 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Mittre
H
H
Laboratoire de Biochimie B, C.H.U. de Caen, France. mittre-h@chu-caen.fr
Duhamel
J F
JF
Abeguile
G
G
Lemaire
M
M
Leymarie
P
P
D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing / Q000235:genetics*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator