Study of 12 Mutations in Turkish Cystic Fibrosis Patients
- 1 January 1995
- journal article
- research article
- Published by S. Karger AG in Human Heredity
- Vol. 45 (3) , 175-177
- https://doi.org/10.1159/000154281
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.Keywords
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