Associated Papers
Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis.
Hamdi-Rozé H et al.
American Journal of Hematology, 2016
HFE gene: Structure, function, mutations, and associated iron abnormalities.
Barton JC et al.
Gene, 2015
Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.
Aguilar-Martinez P et al.
Haematologica, 2011
Genetic and metabolic factors are associated with increased hepatic iron stores in a selected population of p.Cys282Tyr heterozygotes.
Mariani R et al.
Blood Cells, Molecules & Diseases, 2010
Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype.
Le Gac G et al.
Blood, 2008
An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.
Dupradeau FY et al.
Human Mutation, 2008
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