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- Title
Study of 12 Mutations in Turkish Cystic Fibrosis Patients.
- Authors
Yılmaz, E.; Erdem, H.; Özgüç, M.; Coskun, T.; Özçelik, U.; Göçmen, A.; Özalp, İ.
- 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 ΔF508 (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. Copyright © 1995 S. Karger AG, Basel
- Publication
Human Heredity, 1995, Vol 45, Issue 3, p175
- ISSN
0001-5652
- Publication type
Article
- DOI
10.1159/000154281