Associated Papers
Hereditary haemochromatosis: Prevalence and characterization of the disease in a tertiary hospital in Aragon, Spain.
Abadía Molina C et al.
Medicina Clinica, 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
Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.
Joshi R et al.
Molecular Genetics & Genomic Medicine, 2015
A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis.
Hsiao PJ et al.
Journal of Hepatology, 2007
Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis.
Koyama C et al.
Haematologica, 2005
Non-HFE hemochromatosis: genetics, pathogenesis, and clinical management.
Nelson JE et al.
Current Gastroenterology Reports, 2005
Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent.
Le Gac G et al.
British Journal of Haematology, 2004
Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.
Biasiotto G et al.
Clinical Chemistry, 2003
Hematologically important mutations: iron storage diseases.
Beutler L et al.
Blood Cells, Molecules & Diseases, 0
TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy.
Radio FC et al.
Blood Cells, Molecules & Diseases, 0
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