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Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis

BACKGROUNDS: Hereditary hemochromatosis (HH) is mainly caused by homozygous p.C282Y mutations in HFE in the Caucasians. We recently reported non-HFE mutations constitute the major cause of HH in Chinese. However, there is still a relatively high proportion of cases with primary iron overload from un...

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Detalles Bibliográficos
Autores principales: Zhang, Wei, Li, Yanmeng, Xu, Anjian, Ouyang, Qin, Wu, Liyan, Zhou, Donghu, Wu, Lina, Zhang, Bei, Zhao, Xinyan, Wang, Yu, Wang, Xiaoming, Duan, Weijia, Wang, Qianyi, You, Hong, Huang, Jian, Ou, Xiaojuan, Jia, Jidong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9169345/
https://www.ncbi.nlm.nih.gov/pubmed/35668470
http://dx.doi.org/10.1186/s13023-022-02349-y