Identification of rare and novel mutations in the CFTR genes of CF patients in southern England.

@article{Shackleton1994IdentificationOR,
  title={Identification of rare and novel mutations in the CFTR genes of CF patients in southern England.},
  author={Sue Shackleton and Jeremy Hull and S. Dear and Anneke Seller and Anne Thomson and Ann Marie Harris},
  journal={Human mutation},
  year={1994},
  volume={3 2},
  pages={141-51}
}
Cystic fibrosis patients referred to two genetics centres in southern England and not found to carry common CF-associated mutations in one or both of their CFTR genes have been subjected to an extensive mutation search. The whole of the coding region of the CFTR gene, all intron-exon boundaries and 5' and 3' untranslated regions have been examined by a combination of single stranded conformational polymorphism analysis and chemical mismatch detection; 48 chromosomes with rare mutations have… CONTINUE READING

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