Associated Papers
The landscape of hereditary haemochromatosis risk and diagnosis across the British Isles and Ireland.
Kerr SM et al.
Nature Communications, 2026
41633988 (PubMed )
Supplement: 41467_2025_65511_MOESM3_ESM.xlsx › Sheet1
Recurrent BMP4 variants in exon 4 cause non-HFE-associated hemochromatosis via the BMP/SMAD signaling pathway.
Ouyang Q et al.
Orphanet Journal of Rare Diseases, 2024
A novel hepcidin mutation.
Praeger-Jahnsen L et al.
Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2023
Atypical juvenile hereditary hemochromatosis onset with positive pancreatic islet autoantibodies diabetes caused by novel mutations in HAMP and overall clinical management.
Wu HX et al.
Molecular Genetics & Genomic Medicine, 2020
Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.
Lv T et al.
Journal of Medical Genetics, 2018
HAMP Gene Mutation Associated with Juvenile Hemochromatosis in Brazilian Patients.
Fonseca PF et al.
Acta Haematologica, 2016
Recent advances in hemochromatosis: a 2015 update : a summary of proceedings of the 2014 conference held under the auspices of Hemochromatosis Australia.
Ekanayake D et al.
Hepatology International, 2015
Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis.
Hattori A et al.
Blood Cells, Molecules & Diseases, 2012
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