Associated Papers
The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.
Wallace DF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
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 molecular genetics of haemochromatosis.
Le Gac G et al.
European Journal of Human Genetics : Ejhg, 2005
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
[Molecular basis in hereditary haemochromatosis].
Cadet E et al.
La Revue De Medecine Interne, 2005
Inherited iron loading: genetic testing in diagnosis and management.
Worwood M
Blood Reviews, 2005
Transcriptional regulation of the human HFE gene indicates high liver expression and erythropoiesis coregulation.
Mura C et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2004
Pathogenesis of hereditary hemochromatosis.
Fleming RE et al.
Clinics in Liver Disease, 2004
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
Pathogenesis of hereditary hemochromatosis: genetics and beyond.
Britton RS et al.
Seminars in Gastrointestinal Disease, 2002
A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote.
Wallace DF et al.
Gastroenterology, 1999
HFE, hepcidin and ferroportin gene mutations are not present in Indian patients with primary haemochromatosis.
Shukla P et al.
The National Medical Journal of India, 0
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