Associated Papers
Next Generation Sequencing Allows Identification of a Novel Mutation in the TfR2 Gene and Outperforms the Conventional Diagnostic Techniques.
Longo M et al.
Ejhaem, 2025
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 Mutation of Transferrin Receptor 2 in a Chinese Pedigree With Type 3 Hemochromatosis: A Case Report.
Tang S et al.
Frontiers in Genetics, 2022
35464850 (PubMed )
Supplement: DataSheet1.docx
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
Hernández G et al.
Genes, 2021
Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease.
Kowdley DS et al.
The Application of Clinical Genetics, 2021
Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.
Joshi R et al.
Molecular Genetics & Genomic Medicine, 2015
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