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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.

Animal models indicate that the antimicrobial peptide hepcidin (HAMP; OMIM 606464) is probably a key regulator of iron absorption in mammals. Here we report the identification of two mutations (93delG and 166C-->T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis.[1]

References

  1. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Roetto, A., Papanikolaou, G., Politou, M., Alberti, F., Girelli, D., Christakis, J., Loukopoulos, D., Camaschella, C. Nat. Genet. (2003) [Pubmed]
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