title: 394delTT: a Nordic cystic fibrosis mutation.
abstract: In a systematic screening for mutations in the gene encoding the cystic fibrosis transmembrane regulator among Danish cystic fibrosis (CF) patients, we identified a mutation in exon 3 (394delTT); this mutation was found to be relatively common in Denmark. We therefore screened for 394delTT in Sweden and Norway, where it turned out to be the second most frequent mutation, accounting for 4% of all CF mutations. It also occurs with a high frequency in Finland, but has not been found in larger surveys of mutations in the CFTR gene. Thus, 394delTT seems to be a specific Nordic CF mutation.
authors.affiliation: Department of Paediatrics, Rigshospitalet, Copenhagen, Denmark.
authors.forename: M
authors.initials: M
authors.lastname: Schwartz
authors.forename: M
authors.initials: M
authors.lastname: Anvret
authors.forename: M
authors.initials: M
authors.lastname: Claustres
authors.forename: H G
authors.initials: HG
authors.lastname: Eiken
authors.forename: K
authors.initials: K
authors.lastname: Eiklid
authors.forename: C
authors.initials: C
authors.lastname: Schaedel
authors.forename: L
authors.initials: L
authors.lastname: Stolpe
authors.forename: L
authors.initials: L
authors.lastname: Tranebjaerg
mesh_terms: D001483:Base Sequence; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons; D005787:Gene Frequency; D006801:Humans; D007473:Ion Channels; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D012537:Scandinavian and Nordic Countries / Q000453:epidemiology
chemical_list: C505032:CFTR protein, human; D017931:DNA Primers; D007473:Ion Channels; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator