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

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

Abstract 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...

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Detalhes bibliográficos
Principais autores: Wei Zhang, Yanmeng Li, Anjian Xu, Qin Ouyang, Liyan Wu, Donghu Zhou, Lina Wu, Bei Zhang, Xinyan Zhao, Yu Wang, Xiaoming Wang, Weijia Duan, Qianyi Wang, Hong You, Jian Huang, Xiaojuan Ou, Jidong Jia, China Registry of Genetic/Metabolic Liver Diseases (CR-GMLD) Group
Formato: Artigo
Idioma:English
Publicado em: BMC 2022-06-01
coleção:Orphanet Journal of Rare Diseases
Assuntos:
Hereditary hemochromatosis
Non-HFE
UBE2O
PCSK7
Gene mutation
Iron overload
Acesso em linha:https://doi.org/10.1186/s13023-022-02349-y

Internet

https://doi.org/10.1186/s13023-022-02349-y

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