Recurrent BMP4 variants in exon 4 cause non-HFE-associated hemochromatosis via the BMP/SMAD signaling pathway

Recurrent BMP4 variants in exon 4 cause non-HFE-associated hemochromatosis via the BMP/SMAD signaling pathway

Abstract Background Hereditary hemochromatosis (HH) is an iron overload disorder and can be caused by variants in non-HFE genes in Chinese patients. However, there is still a considerable proportion of patients suffering from unexplained iron overload. In our previous study, we had identified the p....

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Bibliographic Details
Main Authors: Qin Ouyang, Yanmeng Li, Anjian Xu, Ning Zhang, Sisi Chen, Donghu Zhou, Bei Zhang, Xiaojuan Ou, Jidong Jia, Jian Huang, Wei Zhang
Format: Article
Language:English
Published: BMC 2024-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hemochromatosis
BMP4 p.H251Y variant
BMP4 p.R269Q variant
Hepcidin
BMP/SMAD
Online Access:https://doi.org/10.1186/s13023-024-03439-9

Internet

https://doi.org/10.1186/s13023-024-03439-9

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