A novel nonsense mutation, S466Xa in exon 10 of the cystic fibrosis transmembrane conductance regulator gene.
Mittre
H
H
Laboratoire de Biochimie B, CHU de Caen, France.
Barre
M
M
Leymarie
P
P
D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D017354:Point Mutation; D016133:Polymerase Chain Reaction
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator