title: Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients.
abstract: Chromosomes from a cohort of 60 Slovenian families, corresponding to the 121 cystic fibrosis (CF) chromosomes available, were fully scanned for mutations in the coding sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (The 60 families yielded 121 CF alleles because the mother of one patient was also affected). This corresponds to the 27 exons and intron/exon boundaries that have been studied in chromosomes carrying unidentified alleles. As a result of this survey 84% of the alleles are now clearly identified and we describe in this paper three novel mutations (457 TAT-->G, D192G, and Q685X).
authors.affiliation: Centre de Biogénétique, C.D.T.S., Brest, France.
authors.forename: M P
authors.initials: MP
authors.lastname: Audrézet
authors.forename: N
authors.initials: N
authors.lastname: Canki-Klain
authors.forename: B
authors.initials: B
authors.lastname: Mercier
authors.forename: D
authors.initials: D
authors.lastname: Bracar
authors.forename: C
authors.initials: C
authors.lastname: Verlingue
authors.forename: C
authors.initials: C
authors.lastname: Férec
mesh_terms: D000483:Alleles; D001483:Base Sequence; D015331:Cohort Studies; D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D017524:Slovenia
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA