Abnormal mRNA splicing resulting from three different mutations in the CFTR gene.

@article{Hull1993AbnormalMS,
  title={Abnormal mRNA splicing resulting from three different mutations in the CFTR gene.},
  author={Jeremy Hull and Sue Shackleton and Ann Marie Harris},
  journal={Human molecular genetics},
  year={1993},
  volume={2 6},
  pages={689-92}
}
Three different putative splicing mutations in the CFTR gene have been studied by analysing mRNA extracted from nasal epithelial cells harvested from patients with cystic fibrosis. Six patients were analysed, all of whom had classical symptoms of cystic fibrosis (CF). Two patients carried the 621 + 1G-->T mutation, 3 patients carried the 1717 - 1G-->A mutation and 1 patient carried the 1898 + 1G-->A mutation. All patients carried the delta F508 mutation on the other chromosome. Ten non-CF… CONTINUE READING

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