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Hereditary Hemochromatosis: Genetic Complexity and New Diagnostic Approaches

21 Apr 2006

Abstract excerpt

Since the discovery of the hemochromatosis gene (HFE) in 1996, several novel gene defects have been detected, explaining the mechanism and diversity of iron-overload diseases. At least 4 main types of hereditary hemochromatosis (HH) have been identified. Surprisingly, genes involved in HH encode for proteins that all affect pathways centered around liver hepcidin synthesis and its interaction with ferroportin, an...

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PMID: 16627556
DOI: 10.1373/clinchem.2006.068684

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