Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden.

@article{Schaedel1999ThreeCC,
  title={Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden.},
  author={Charlotte Schaedel and Lena E Hjelte and Isabelle de Monestrol and Marie Johannesson and H Kollberg and Ragnhild Kornf{\"a}lt and Lars H Holmberg},
  journal={Clinical genetics},
  year={1999},
  volume={56 4},
  pages={318-22}
}
Children with cystic fibrosis (CF) diagnosed by neonatal screening have a better nutritional development and other advantages compared with those in a nonscreened group. The two-tier immunoreactive trypsinogen (IRT)/DNA screening protocol has been found superior to the single-tier IRT approach, improving the positive predictive value and thus reducing the false-positive rate. However, variations of the DNA test are required for different populations. In this study we examined CFTR (cystic… CONTINUE READING