title: A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.
authors.forename: J P
authors.initials: JP
authors.lastname: Cheadle
authors.forename: A L
authors.initials: AL
authors.lastname: Meredith
authors.forename: L N
authors.initials: LN
authors.lastname: al-Jader
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA