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Study of 12 Mutations in Turkish Cystic Fibrosis Patients

 

作者: E. Yılmaz,   H. Erdem,   M. Özgüç,   T. Coskun,   U. Özçelik,   A. Göçmen,   İ. Özalp,  

 

期刊: Human Heredity  （Karger Available online 1995）
卷期: Volume 45, issue 3  

页码: 175-177

 

ISSN:0001-5652

 

年代: 1995

 

DOI:10.1159/000154281

 

出版商: S. Karger AG

 

关键词: Turkish cystic fibrosis;Mutation frequency

 

数据来源: Karger

 

摘要:

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

 

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