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A Novel Mutation of Transferrin Receptor 2 in a Chinese Pedigree With Type 3 Hemochromatosis: A Case Report

Type 3 hereditary hemochromatosis (HH) is a rare form of HH characterized by genetic mutation in the TFR2 gene. Clinical features reported in patients with type 3 HH include abnormal liver function, liver fibrosis, cirrhosis, diabetes, hypogonadism, cardiomyopathy, and skin pigmentation. Since its o...

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Detalles Bibliográficos
Autores principales:	Tang, Shan, Bai, Li, Gao, Yuan, Hou, Wei, Song, Wenyan, Liu, Hui, Hu, Zhongjie, Duan, Zhongping, Zhang, Liaoyun, Zheng, Sujun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9024051/ https://www.ncbi.nlm.nih.gov/pubmed/35464850 http://dx.doi.org/10.3389/fgene.2022.836431

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