HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.

@article{Mura1999HFEMA,
  title={HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.},
  author={Catherine Mura and Odile Ragu{\'e}n{\`e}s and Claude F{\'e}rec},
  journal={Blood},
  year={1999},
  volume={93 8},
  pages={
          2502-5
        }
}
  • Catherine Mura, Odile Raguénès, Claude Férec
  • Published 1999
  • Medicine
  • Blood
  • Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism. The HFE candidate gene encoding an HLA class I-like protein involved in HH was identified in 1996. Two missense mutations have been described: C282Y, accounting for 80% to 90% of HH chromosomes, and H63D, which is associated with a milder form of the disease representing 40% to 70% of non-C282Y HH chromosomes. We report here on the analysis of C282Y, H63D, and the 193A-->T substitution leading… CONTINUE READING

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