Cystic fibrosis in a low-incidence population: two major mutations in Finland

@article{Kere1994CysticFI,
  title={Cystic fibrosis in a low-incidence population: two major mutations in Finland},
  author={Juha Kere and Xavier Estivill and Miguel Chill{\'o}n and N{\'u}ria Morral and Virginia Numes and Reijo Norio and Emma Merike Savilahti and Albert de la Chapelle},
  journal={Human Genetics},
  year={1994},
  volume={93},
  pages={162-166}
}
The incidence of cystic fibrosis (CF) in Finland, 1∶25 000 newborn, is one of the lowest in Caucasian populations. The ΔF508 mutation accounts for 18/40 (45%) of CF chromosomes in Finland. Other mutations were therefore sought among the remaining 55%. Twelve out of 40 chromosomes (30%) were found to carry 394delTT, whereas G542X and 3732delA were each… CONTINUE READING