Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation

@article{Kanavakis1995MutationAO,
  title={Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation},
  author={Emmanuel Kanavakis and Maria Tzetis and Thalia Antoniadi and J Traeger-Synodinos and Stavros E Doudounakis and George Adam and Nikos Matsaniotis and Christos C Kattamis},
  journal={Human Genetics},
  year={1995},
  volume={96},
  pages={364-366}
}
To initiate the complete characterization of mutations in the CFTR gene in Greek cystic fibrosis (CF) patients, we screened 184 patients for six relatively common mutations (AF 508, G542X, G551D, 621+1 G→T, N1303K, W1282X) using allele-specific hybridization and, in addition, analyzed exons 4, 5, 7, 8, 10, 11, 17b, 19, 20 and 21 using the method of denaturing gradient gel electrophoresis (DGGE). Six mutations accounted for 65.9% of the CF alleles in Greek patients, of which the ΔF 508 mutation… CONTINUE READING

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