Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants

BACKGROUND: Heterozygotes for the p.Cys282Tyr (C282Y) mutation of the HFE gene do not usually express a hemochromatosis phenotype. Apart from the compound heterozygous state for C282Y and the widespread p.His63Asp (H63D) variant allele, other rare HFE mutations can be found in trans on chromosome 6....

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Detalhes bibliográficos
Main Authors: Aguilar-Martinez, Patricia, Grandchamp, Bernard, Cunat, Séverine, Cadet, Estelle, Blanc, François, Nourrit, Marlène, Lassoued, Kaiss, Schved, Jean-François, Rochette, Jacques
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2011
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3069226/
https://ncbi.nlm.nih.gov/pubmed/21228038
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2010.029751
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