A novel frameshift mutation (1651ins5) in exon 10 of the CFTR gene can be misinterpreted as a DeltaF508 mutation.
Delaere
G
G
Department of Medical Genetics, University of Antwerp (UIA), Antwerp, Belgium. delaere@uia.ua.ac.be
Stuer
K
K
Storm
K
K
Willems
P J
PJ
Van Hul
W
W
D001483:Base Sequence; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction
C505032:CFTR protein, human; C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator