Mutation analysis of the CFTR gene in Slovak cystic fibrosis patients by DHPLC and subsequent sequencing: identification of four novel mutations.

@article{Kolesar2008MutationAO,
  title={Mutation analysis of the CFTR gene in Slovak cystic fibrosis patients by DHPLC and subsequent sequencing: identification of four novel mutations.},
  author={Peter J. Kolesar and Gabriel Min{\'a}rik and Mari{\'a}n Baldovi{\vc} and Andrej Ficek and L{\'a}szl{\'o} Kov{\'a}cs and L'udev{\'i}t K{\'a}dasi},
  journal={General physiology and biophysics},
  year={2008},
  volume={27 4},
  pages={299-305}
}
Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder in Caucasians. Its incidence is approximately 1:2500 newborns. CF is caused by mutations in the transmembrane conductance regulator (CFTR) gene, which encodes an important chloride ion channel. The disease affects the respiratory, digestive and reproductive systems. To date more than 1550 mutations and polymorphisms have been identified throughout the CFTR gene, making the DNA diagnosis more difficult. Rapid accurate… CONTINUE READING