A novel nonsense mutation, S434X, in exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Mittre
H
H
Laboratoire de Biochimie B, C.H.U. Ave G. Clemenceau, 14033 Caen Cedex, France. mittre-h@chu-caen.fr
Bahlous
A
A
Leporrier
N
N
Leymarie
P
P
D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D018388:Codon, Terminator / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012694:Serine / Q000235:genetics
C505032:CFTR protein, human; D018388:Codon, Terminator; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D012694:Serine