| Literature DB >> 7542223 |
E Yilmaz1, H Erdem, M Ozgüç, T Coşkun, U Ozçelik, A Göçmen, I Ozalp.
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.Entities:
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Year: 1995 PMID： 7542223 DOI： 10.1159/000154281
Source DB: PubMed Journal: Hum Hered ISSN： 0001-5652 Impact factor: 0.444