CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients

BACKGROUND: Most patients with hereditary hemochromatosis in the Caucasian population are homozygous for the p.C282Y mutation in the HFE gene. The penetrance and expression of hereditary hemochromatosis differ largely among cases of homozygous p.C282Y. Genetic factors might be involved in addition t...

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Detalhes bibliográficos
Main Authors: Pelucchi, Sara, Mariani, Raffaella, Calza, Stefano, Fracanzani, Anna Ludovica, Modignani, Giulia Litta, Bertola, Francesca, Busti, Fabiana, Trombini, Paola, Fraquelli, Mirella, Forni, Gian Luca, Girelli, Domenico, Fargion, Silvia, Specchia, Claudia, Piperno, Alberto
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2012
Assuntos:
Original Articles and Brief Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3590088/
https://ncbi.nlm.nih.gov/pubmed/22773607
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2012.062661
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