title: [The type and frequency of mutations in CFTR gene occurrence in patients with cystic fibrosis in Poland--implication of results obtained from genetic counseling and diagnostic screening].
abstract: Results of the study on mutations in the CFTR gene in Polish population were presented. Among 19 studied only 6 mutations were identified, and its frequency established. Molecular study as a routine diagnostic procedure in cystic fibrosis is proposed.
authors.affiliation: Zakład Genetyki Instytutu Matki i Dziecka w Warszawie.
authors.forename: J
authors.initials: J
authors.lastname: Bal
authors.forename: D
authors.initials: D
authors.lastname: Maciejko
authors.forename: T
authors.initials: T
authors.lastname: Mazurczak
mesh_terms: D000328:Adult; D001483:Base Sequence; D002648:Child; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005787:Gene Frequency; D005817:Genetic Counseling; D005819:Genetic Markers; D006801:Humans; D008403:Mass Screening; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: C505032:CFTR protein, human; D005819:Genetic Markers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
vernacular_title: Rodzaj i czestość wystepowania mutacji w genie CFTR u chorych na mukowiscydoze w Polsce--znaczenie wyników badań dla poradnictwa genetycznego i badań przesiewowych.