A Juvenile Hemochromatosis Patient Homozygous for a Novel Deletion of cDNA Nucleotide 81 of Hemojuvelin
Author:
Publisher
S. Karger AG
Subject
Hematology,General Medicine
Reference16 articles.
1. Juvenile Hemochromatosis Locus Maps to Chromosome 1q
2. Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis
3. Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin
4. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
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1. Juvenile Hemochromatosis: A Case Report and Review of the Literature;Pharmaceuticals;2020-08-15
2. Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review;Orphanet Journal of Rare Diseases;2019-07-08
3. Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease;Blood;2018-07-05
4. Genetic Testing for Disorders of Iron Homeostasis;Iron Physiology and Pathophysiology in Humans;2011-11-24
5. Non-HFE Hemochromatosis;Iron Physiology and Pathophysiology in Humans;2011-11-24
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