Cystic fibrosis: A worldwide analysis of CFTR mutations—correlation with incidence data and application to screening

@article{Bobadilla2002CysticFA,
  title={Cystic fibrosis: A worldwide analysis of CFTR mutations—correlation with incidence data and application to screening},
  author={J. L. Bobadilla and M. Macek and J. Fine and P. Farrell},
  journal={Human Mutation},
  year={2002},
  volume={19}
}
  • J. L. Bobadilla, M. Macek, +1 author P. Farrell
  • Published 2002
  • Biology, Medicine
  • Human Mutation
  • Although there have been numerous reports from around the world of mutations in the gene of chromosome 7 known as CFTR (cystic fibrosis transmembrane conductance regulator), little attention has been given to integrating these mutant alleles into a global understanding of the population molecular genetics associated with cystic fibrosis (CF). We determined the distribution of CFTR mutations in as many regions throughout the world as possible in an effort designed to: 1) increase our… CONTINUE READING
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