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
The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype.
Uguen K et al.
Hgg Advances, 2024
39039793 (PubMed )
Supplement: mmc2.pdf
A newly identified ferritin L-subunit variant results in increased proteasomal subunit degradation, impaired complex assembly, and severe hypoferritinemia.
Shagidov D et al.
American Journal of Hematology, 2024
Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.
Ramaswamy S et al.
Journal of Personalized Medicine, 2022
35330423 (PubMed )
Supplement: jpm-12-00423-s001.zip › Supplementary_Table.xlsx › Supp_Table2
Mutations and polymorphisms associated with iron overload in a series of 91 non-HFE haemochromatosis patients.
Borgel A et al.
Clinics and Research in Hepatology and Gastroenterology, 2020
Evaluation of a bone morphogenetic protein 6 variant as a cause of iron loading.
McDonald CJ et al.
Human Genomics, 2018
Identification of new BMP6 pro-peptide mutations in patients with iron overload.
Piubelli C et al.
American Journal of Hematology, 2017
Heterozygous BMP6 Variants Coupled With HFE Variants.
Bignell P et al.
Gastroenterology, 2016
Genetic Variants in the BMP6 Pro-Peptide May Not Cause Iron Loading and Should Be Interpreted With Caution.
McDonald CJ et al.
Gastroenterology, 2016
Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.
Daher R et al.
Gastroenterology, 2016
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