A novel nonsense mutation, W846XI (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Cheadle
J P
JP
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.
al-Jader
L N
LN
Meredith
A L
AL
D000328:Adult; D001176:Arthrogryposis / Q000150:complications; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000235:genetics; D005091:Exons; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D017354:Point Mutation
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA