title: A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
authors.affiliation: Institute of Medical Biology and Human Genetics, University of Graz, Austria.
authors.forename: I
authors.initials: I
authors.lastname: Greil
authors.forename: K
authors.initials: K
authors.lastname: Wagner
authors.forename: W
authors.initials: W
authors.lastname: Rosenkranz
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator