Cystic fibrosis

@article{Ratjen2003CysticF,
  title={Cystic fibrosis},
  author={F. Ratjen and G. Doering},
  journal={The Lancet},
  year={2003},
  volume={361},
  pages={681-689}
}
  • F. Ratjen, G. Doering
  • Published 2003
  • Medicine
  • The Lancet
  • Cystic fibrosis is the most common autosomal recessive disorder in white people, with a frequency of about 1 in 2500 livebirths. Discovery of the mutated gene encoding a defective chloride channel in epithelial cells--named cystic fibrosis transmembrane conductance regulator (CFTR)--has improved our understanding of the disorder's pathophysiology and has aided diagnosis, but has shown the disease's complexity. Gene replacement therapy is still far from being used in patients with cystic… CONTINUE READING
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