A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis

Low levels of hepcidin are responsible for the development of iron overload in p.Cys282Tyr HFE related hemochromatosis. Every genetic factor lowering the hepcidin gene expression could contribute to a more severe phenotype in HFE hemochromatosis. Based on this hypothesis, we identified a heterozygou...

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Bibliographic Details
Main Authors: Island, Marie-Laure, Jouanolle, Anne-Marie, Mosser, Annick, Deugnier, Yves, David, Véronique, Brissot, Pierre, Loréal, Olivier
Format: Artigo
Language:Inglês
Published: Ferrata Storti Foundation 2009
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Brief Reports
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2675685/
https://ncbi.nlm.nih.gov/pubmed/19286879
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2008.001784
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