Associated Papers
Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.
Kong X et al.
Orphanet Journal of Rare Diseases, 2019
Analysis of HFE mutations and non-HFE gene mutations (TFR2 and SLC40A1) in patients with phenotypic hemochromatosis from the Basque Country.
Castiella A et al.
International Journal of Laboratory Hematology, 2016
Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasis.
Core AB et al.
Frontiers in Pharmacology, 2014
Effect of the A736V TMPRSS6 polymorphism on the penetrance and clinical expression of hereditary hemochromatosis.
Valenti L et al.
Journal of Hepatology, 2012
Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
Santos PC et al.
Blood Cells, Molecules & Diseases, 2011
Hemojuvelin and hepcidin genes sequencing in Brazilian patients with primary iron overload.
de Lima Santos PC et al.
Genetic Testing and Molecular Biomarkers, 2010
The hand arthropathy of hereditary hemochromatosis is strongly associated with iron overload.
Valenti L et al.
The Journal of Rheumatology, 2008
HFE gene mutations in susceptibility to childhood leukemia: HuGE review.
Dorak MT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005
Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population.
Barton JC et al.
Bmc Medical Genetics, 2004
The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.
Le Gac G et al.
Human Molecular Genetics, 2004
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