A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosis.
Crawford
J
J
Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia.
Labrinidis
A
A
Carey
W F
WF
Nelson
P V
PV
Harvey
J S
JS
Morris
C P
CP
D001483:Base Sequence; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012326:RNA Splicing / Q000235:genetics
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA