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  • Title: Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients.
    Author: Kádasi L, Poláková H, Zatková A, Kayserová H.
    Journal: Gene Geogr; 1997 Apr; 11(1):51-6. PubMed ID: 9615214.
    Abstract:
    The distribution of 9 known mutations in the CFTR gene were studied in 234 CF chromosomes originating from 117 unrelated cystic fibrosis (CF) patients from Slovakia, a population which is geographically situated at the borders between Western and Eastern Europe, and Northern and Southern Europe. The following 7 mutations were identified in this sample: delta F508 (59.4%), G542X (5.56%), R553X (3.42%), N1303K (2.99%), R347P (1.71%), W1282X (0.85%), and 3849 + 10 kb (0.43%). These mutations represent 74.36% of all CF mutations, providing a good basis for direct DNA-based diagnosis of CF in Slovakia.
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