title: A novel nonsense mutation, W846XI (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.
authors.forename: J P
authors.initials: JP
authors.lastname: Cheadle
authors.forename: L N
authors.initials: LN
authors.lastname: al-Jader
authors.forename: A L
authors.initials: AL
authors.lastname: Meredith
mesh_terms: 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
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA