Cloning of cDNAs for Fanconi's anaemia by functional complementation

@article{Strathdee1992CloningOC,
  title={Cloning of cDNAs for Fanconi's anaemia by functional complementation},
  author={C. A. Strathdee and H. Gavish and W. R. Shannon and M. Buchwald},
  journal={Nature},
  year={1992},
  volume={356},
  pages={763-767}
}
  • C. A. Strathdee, H. Gavish, +1 author M. Buchwald
  • Published 1992
  • Biology, Medicine
  • Nature
  • Fanconi's anaemia is a rare autosomal recessive disorder characterized by progressive pan-cytopaenia and a cellular hypersensitivity to DNA crosslinking agents. Four genetic complementation groups have been identified so far, and here we use a functional complementation method to clone complementary DNAs that correct the defect of group C cells. The cDNAs encode alternatively processed transcripts of a new gene, designated FACC, which is mutated in group C patients. The predicted FACC… CONTINUE READING

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