title: Identification of a frameshift mutation (557 del T) in exon 4 of the CFTR gene.
authors.affiliation: Regional Genetics Centre, Belfast City Hospital, Northern Ireland.
authors.forename: C A
authors.initials: CA
authors.lastname: Graham
authors.forename: P K
authors.initials: PK
authors.lastname: Goon
authors.forename: A J
authors.initials: AJ
authors.lastname: Hill
authors.forename: N C
authors.initials: NC
authors.lastname: Nevin
mesh_terms: D001483:Base Sequence; D002648:Child; D002872:Chromosome Deletion; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; 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