title: Study of 12 mutations in Turkish cystic fibrosis patients.
abstract: 67 unrelated cystic fibrosis (CF) patients were screened for some of the most common mutations of the CFTR gene. This analysis resulted in the identification of 34.6% of all CF alleles. The most common mutation is delta F508 (28.4%). Two other mutations account for a further 6.7% of the alleles (R347H: 3.0%; N1303K: 3.7%). 1677delTA, G542X, G551D, S549N/I, R553X, L558S, R334W, and R297Q were not detected.
authors.affiliation: Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
authors.forename: E
authors.initials: E
authors.lastname: Yilmaz
authors.forename: H
authors.initials: H
authors.lastname: Erdem
authors.forename: M
authors.initials: M
authors.lastname: Ozgüç
authors.forename: T
authors.initials: T
authors.lastname: Coşkun
authors.forename: U
authors.initials: U
authors.lastname: Ozçelik
authors.forename: A
authors.initials: A
authors.lastname: Göçmen
authors.forename: I
authors.initials: I
authors.lastname: Ozalp
mesh_terms: D000293:Adolescent; D000483:Alleles; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D014421:Turkey
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator