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
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
Non-HFE hemochromatosis.
Santos PC et al.
Revista Brasileira De Hematologia E Hemoterapia, 2012
Factors influencing disease phenotype and penetrance in HFE haemochromatosis.
Rochette J et al.
Human Genetics, 2010
Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes.
Mendes AI et al.
Annals of Hematology, 2009
Global sequencing approach for characterizing the molecular background of hereditary iron disorders.
Cunat S et al.
Clinical Chemistry, 2007
Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation.
Ka C et al.
Haematologica, 2007
Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.
Aguilar-Martinez P et al.
Haematologica, 2007
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