title: Two frameshift mutations in the cystic fibrosis gene.
abstract: Cystic fibrosis (CF) is a recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. We have identified in exon 7 two frameshift mutations, one caused by a two-nucleotide insertion and the other caused by a one-nucleotide deletion; these mutations--CF1154insTC and CF1213delT, respectively, are predicted to shift the reading frame of the protein and to introduce UAA(ochre) termination codons at residues 369 and 368.
authors.affiliation: Department of Internal Medicine, University of Michigan, Ann Arbor.
authors.forename: M C
authors.initials: MC
authors.lastname: Iannuzzi
authors.forename: R C
authors.initials: RC
authors.lastname: Stern
authors.forename: F S
authors.initials: FS
authors.lastname: Collins
authors.forename: C T
authors.initials: CT
authors.lastname: Hon
authors.forename: N
authors.initials: N
authors.lastname: Hidaka
authors.forename: T
authors.initials: T
authors.lastname: Strong
authors.forename: L
authors.initials: L
authors.lastname: Becker
authors.forename: M L
authors.initials: ML
authors.lastname: Drumm
authors.forename: M B
authors.initials: MB
authors.lastname: White
authors.forename: B
authors.initials: B
authors.lastname: Gerrard
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons; D016368:Frameshift Mutation; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D004247:DNA