title: G27X: a novel mutation in exon 2 of the CF gene.
authors.affiliation: Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
authors.forename: S
authors.initials: S
authors.lastname: Shackleton
authors.forename: A
authors.initials: A
authors.lastname: Harris
mesh_terms: D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D007473:Ion Channels / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: C505032:CFTR protein, human; D007473:Ion Channels; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator