Associated Papers
HFE-Related Hemochromatosis May Be a Primary Kupffer Cell Disease.
Kouroumalis E et al.
Biomedicines, 2025
Investigation of BMP6 mutations in Brazilian patients with iron overload.
Toreli ACM et al.
Hematology, Transfusion and Cell Therapy, 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
Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.
Ravasi G et al.
Genes, 2021
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
Porphyria cutanea tarda associated with elevated serum ferritin, iron overload, and a bone morphogenetic protein 6 genetic variant.
Adams PC et al.
Canadian Liver Journal, 2020
Evaluation of a bone morphogenetic protein 6 variant as a cause of iron loading.
McDonald CJ et al.
Human Genomics, 2018
Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele.
Uguen K et al.
American Journal of Hematology, 2017
The dynamics of hepcidin-ferroportin internalization and consequences of a novel ferroportin disease mutation.
Wallace DF et al.
American Journal of Hematology, 2017
Identification of new BMP6 pro-peptide mutations in patients with iron overload.
Piubelli C et al.
American Journal of Hematology, 2017
The p.Leu96Pro Missense Mutation in the BMP6 Gene Is Repeatedly Associated With Hyperferritinemia in Patients of French Origin.
Le Gac G 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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