Article
Analysis of cystic fibrosis gene mutations and associated haplotypes in the Croatian population.
Genetic testing - 1 Jan 2007
Knezević Jelena, Tanacković Goranka, Matijević Tanja, Barisić Ingeborg, Pavelić Jasminka
Abstract excerpt
The aim of this study was to reveal the CFTR gene mutation status in the Croatian population as well as to establish the haplotypes associated with cystic fibrosis (CF) and those associated with specific gene mutations. A total of 48 unrelated CF patients from Croatia were examined. Among 96 tested alleles, we found nine different mutations: DeltaF508, 58.33%; G542X, 3.12%; N1303K, 2.08%; R1162X; 621 + 1G --> T;...
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