Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene
Author:
Publisher
Elsevier BV
Subject
Hepatology
Reference11 articles.
1. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis;Feder;Nat Genet,1996
2. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22;Camaschella;Nat Genet,2000
3. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis;Njajou;Nat Genet,2001
4. Mutant antimicrobial hepcidin is associated with severe juvenile hemochromatosis;Roetto;Nat Genet,2003
5. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis;Papanikolaou;Nat Genet,2004
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1. DENND3 p.L708V activating variant is involved in the pathogenesis of hereditary hemochromatosis via the RAB12/TFR2 signaling pathway;Hepatology International;2023-02-02
2. EASL Clinical Practice Guidelines on haemochromatosis;Journal of Hepatology;2022-08
3. Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene;Case Reports in Pediatrics;2022-04-11
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5. Ethnic Differences in Iron Status;Advances in Nutrition;2021-04-30
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