title: Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome.
authors.affiliation: Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-3914.
authors.forename: M
authors.initials: M
authors.lastname: Macek
authors.forename: A
authors.initials: A
authors.lastname: Hamosh
authors.forename: S
authors.initials: S
authors.lastname: Kiesewetter
authors.forename: I
authors.initials: I
authors.lastname: McIntosh
authors.forename: B J
authors.initials: BJ
authors.lastname: Rosenstein
authors.forename: G R
authors.initials: GR
authors.lastname: Cutting
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D007723:Korea / Q000208:ethnology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA