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
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
Two middle-age-onset hemochromatosis patients with heterozygous mutations in the hemojuvelin gene in a Chinese family.
Li S et al.
International Journal of Hematology, 2014
Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasis.
Core AB et al.
Frontiers in Pharmacology, 2014
Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations.
McDonald CJ et al.
Journal of Gastroenterology and Hepatology, 2013
A Q312X mutation in the hemojuvelin gene is associated with cardiomyopathy due to juvenile haemochromatosis.
Nagayoshi Y et al.
European Journal of Heart Failure, 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
HJV gene mutations in European patients with juvenile hemochromatosis.
Gehrke SG et al.
Clinical Genetics, 2005
Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families.
Wallace DF et al.
Haematologica, 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
Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemochromatosis, in Greece.
Pissia M et al.
Haematologica, 2004
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.
Papanikolaou G et al.
Nature Genetics, 2004
Hematologically important mutations: iron storage diseases.
Beutler L et al.
Blood Cells, Molecules & Diseases, 0