Regulation of iron absorption in Hfe mutant mice.

@article{Ajioka2002RegulationOI,
  title={Regulation of iron absorption in Hfe mutant mice.},
  author={Richard S. Ajioka and Joanne E. Levy and Nancy Catherine Andrews and James P. Kushner},
  journal={Blood},
  year={2002},
  volume={100 4},
  pages={
          1465-9
        }
}
Hereditary hemochromatosis is most commonly caused by homozygosity for a point mutation (C282Y) in the human hemochromatosis gene (HFE). The mechanism by which HFE regulates iron absorption is not known, but the C282Y mutation results in loss of cell surface expression of the human hemachromatosis protein (HFE) and hyperabsorption of iron by the duodenal enterocyte. Mice homozygous for a deletion in the mouse hemochromatosis gene (Hfe) or a mutation equivalent to that seen in human hereditary… CONTINUE READING

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Transferrin receptor2 gene and nonc 282 y homozygous patients with hemochromatosis

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