Associated Papers
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
Hernández G et al.
Genes, 2021
Juvenile Hemochromatosis: A Case Report and Review of the Literature.
Takami A et al.
Pharmaceuticals (basel, Switzerland), 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.
Kong X et al.
Orphanet Journal of Rare Diseases, 2019
Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasis.
Core AB et al.
Frontiers in Pharmacology, 2014
Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
Santos PCJL et al.
International Journal of Molecular Sciences, 2012
Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response.
Pagani A et al.
Haematologica, 2008
Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis.
Silvestri L et al.
Blood, 2007
The molecular genetics of haemochromatosis.
Le Gac G et al.
European Journal of Human Genetics : Ejhg, 2005
Non-HFE hemochromatosis: genetics, pathogenesis, and clinical management.
Nelson JE et al.
Current Gastroenterology Reports, 2005
Recent advances in understanding haemochromatosis: a transition state.
Robson KJ et al.
Journal of Medical Genetics, 2004
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.
Lanzara C et al.
Blood, 2004
Hematologically important mutations: iron storage diseases.
Beutler L et al.
Blood Cells, Molecules & Diseases, 0
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