Article
Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.
Blood - 1 Aug 2002
Mattman Andre, Huntsman David, Lockitch Gillian, Langlois Sylvie, Buskard Noel, Ralston Diana, Butterfield Yaron, Rodrigues Pedro, Jones Steven, Porto Graça, Marra Marco, De Sousa Maria, Vatcher Greg
Abstract excerpt
Hereditary hemochromatosis (HH) is classically associated with a Cys282Tyr (C282Y) mutation of the HFE gene. Non-C282Y HH is a heterogeneous group accounting for 15% of HH in Northern Europe. Pathogenic mutations of the transferrin receptor 2 (TfR2) gene have been identified in 4 Italian pedigrees with the latter syndrome. The goal of this study was to perform a mutational analysis of the TfR2 and HFE genes in a...
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