Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

@article{Riordan1989IdentificationOT,
  title={Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.},
  author={John R. Riordan and Johanna M. Rommens and Noa Alon and Richard F. Rozmahel and Zbyszko F. Grzelczak and Julian Zieleński and Natasa Plavsic and Jia-Ling Chou and Mitchell L. Drumm and Michael C. Iannuzzi and Francis S. Collins},
  journal={Science},
  year={1989},
  volume={245 4922},
  pages={
          1066-73
        },
  url={https://api.semanticscholar.org/CorpusID:84566748}
}
A deletion of three base pairs that results in the omission of a phenylalanine residue at the center of the first predicted nucleotide-binding domain was detected in CF patients.
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94 References

Identification of the cystic fibrosis gene: chromosome walking and jumping.

Several transcribed sequences and conserved segments were identified in this cloned region and one corresponds to the cystic fibrosis gene and spans approximately 250,000 base pairs of genomic DNA.

Identification of the cystic fibrosis gene: genetic analysis.

Extended haplotype data based on DNA markers closely linked to the putative disease gene locus suggest that the remainder of the cystic fibrosis mutant gene pool consists of multiple, different mutations.

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