title: A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.
authors.affiliation: Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia.
authors.forename: L
authors.initials: L
authors.lastname: Petreska
authors.forename: D
authors.initials: D
authors.lastname: Plaseska
authors.forename: S
authors.initials: S
authors.lastname: Koceva
authors.forename: A
authors.initials: A
authors.lastname: Stavljenić-Rukavina
authors.forename: G D
authors.initials: GD
authors.lastname: Efremov
mesh_terms: D002675:Child, Preschool; D017523:Croatia; D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator