Associated Papers
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
The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.
Ka C et al.
Human Genetics, 2005
A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote.
Barton JC et al.
Clinical Genetics, 2004
Hematologically important mutations: iron storage diseases.
Beutler L et al.
Blood Cells, Molecules & Diseases, 0
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