Reduced phenotypic expression in genetic hemochromatosis with time role of exposure to nongenetic modifiers

Abstract : Genetic hemochromatosis is mainly related to the homozygous genotype for the HFE p.Cys282Tyr (C282Y) mutation leading to hepcidin deficiency. Its low penetrance suggests the involvement of cofactors modulating its expression AIM To describe the evolution of disease presentation and of non-genetic factors liable to impact hepcidin production in the long term.
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Yves Deugnier, Jeff Morcet, Fabrice Lainé, Houda Hamdi-Rozé, Anne-Sophie Bollard, et al.. Reduced phenotypic expression in genetic hemochromatosis with time role of exposure to nongenetic modifiers. Journal of Hepatology, Elsevier, 2018, 70 (1), pp.118-125. ⟨10.1016/j.jhep.2018.09.009⟩. ⟨hal-01903065⟩

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