The Molecular Basis for Disease Variability in Cystic Fibrosis

  title={The Molecular Basis for Disease Variability in Cystic Fibrosis},
  author={B. Kerem and E. Kerem},
  journal={European Journal of Human Genetics},
  • B. Kerem, E. Kerem
  • Published 1996
  • Biology, Medicine
  • European Journal of Human Genetics
  • Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The disease is characterized by a wide variability of clinical expression. The cloning of the CFTR gene and the identification of its mutations has promoted extensive research into the association between genotype and phenotype. Several studies showed that there are mutations, like the ΔF508 (the most common mutation worldwide), which are associated… CONTINUE READING
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