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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Detalhes bibliográficos
Main Authors: Island, Marie-Laure, Jouanolle, Anne-Marie, Mosser, Annick, Deugnier, Yves, David, Véronique, Brissot, Pierre, Loréal, Olivier
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2009
Assuntos:
Brief Reports
Acesso em linha: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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