Common Variants in the BMP2, BMP4, and HJV Genes of the Hepcidin Regulation Pathway Modulate HFE Hemochromatosis Penetrance

Most cases of genetic hemochromatosis (GH) are associated with the HFE C282Y/C282Y (p.Cys282Tyr/p.Cys282Tyr) genotype in white populations. The symptoms expressed by C282Y homozygotes are extremely variable. Only a few suffer from an overt disease. Several studies have suggested that, in addition to...

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Autors principals: Milet, Jacqueline , Déhais, Valérie , Bourgain, Catherine , Jouanolle, Anne Marie , Mosser, Annick , Perrin, Michèle , Morcet, Jeff , Brissot, Pierre , David, Véronique , Deugnier, Yves , Mosser, Jean 
Format: Artigo
Idioma:Inglês
Publicat: American Society of Human Genetics 2007
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2227929/
https://ncbi.nlm.nih.gov/pubmed/17847004
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