Study of 12 mutations in Turkish cystic fibrosis patients.
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.
Yilmaz
E
E
Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Erdem
H
H
Ozgüç
M
M
Coşkun
T
T
Ozçelik
U
U
Göçmen
A
A
Ozalp
I
I
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
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator