Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.

@article{Kenkov2013DistributionOC,
  title={Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.},
  author={Petra Křenkov{\'a} and Tereza Pisk{\'a}{\vc}kov{\'a} and Andrea Holubov{\'a} and Miroslava Bala{\vs}{\vc}akov{\'a} and Veronika Kruli{\vs}ov{\'a} and Jana {\vC}amajov{\'a} and Marek Turnovec and Malgorzata Libik and Patricia Norambuena and Alexandra {\vS}tambergov{\'a} and Lenka Dvoř{\'a}kov{\'a} and Veronika Skalick{\'a} and Jana Barto{\vs}ov{\'a} and Tereza Ku{\vc}erov{\'a} and Libor Fila and Dana Zemkov{\'a} and Věra V{\'a}vrov{\'a} and Monika Koudov{\'a} and Alice Krebsov{\'a} and Milan Macek},
  journal={Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society},
  year={2013},
  volume={12 5},
  pages={532-7}
}
BACKGROUND This two decade long study presents a comprehensive overview of the CFTR mutation distribution in a representative cohort of 600 Czech CF patients derived from all regions of the Czech Republic. METHODS We examined the most common CF-causing mutations using the Elucigene CF-EU2v1™ assay, followed by MLPA, mutation scanning and/or sequencing of the entire CFTR coding region and splice site junctions. RESULTS We identified 99.5% of all mutations (1194/1200 CFTR alleles) in the… CONTINUE READING
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