Associated Papers
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
SLC40A1-related hemochromatosis associated with a p.Y333H mutation in mainland China: a pedigree report and literature review.
Li Y et al.
Bmc Medical Genomics, 2024
Iron overload due to SLC40A1 mutation of type 4 hereditary hemochromatosis.
Hu J et al.
Medical Molecular Morphology, 2023
DENND3 p.L708V activating variant is involved in the pathogenesis of hereditary hemochromatosis via the RAB12/TFR2 signaling pathway.
Li Y et al.
Hepatology International, 2023
The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease).
Uguen K et al.
Human Mutation, 2023
Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China.
Wu L et al.
Orphanet Journal of Rare Diseases, 2021
Inherited iron overload disorders.
Piperno A et al.
Translational Gastroenterology and Hepatology, 2020
A case report of hereditary hemochromatosis caused by mutation of SLC40A1 gene.
Yin X et al.
Medicine, 2019
Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.
Vlasveld LT et al.
Pharmaceuticals (basel, Switzerland), 2019
A novel SLC40A1 p.Y333H mutation with gain of function of ferroportin: A recurrent cause of haemochromatosis in China.
Zhang W et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2019
Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.
Lv T et al.
Journal of Medical Genetics, 2018
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