A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression

A delayed fetal-to-adult hemoglobin (Hb) switch ameliorates the severity of β-thalassemia and sickle cell disease. The molecular mechanism underlying the epigenetic dysregulation of the switch is unclear. To explore the potential cis-variants responsible for the Hb switching, we systematically analy...

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Published in:Am J Hum Genet
Main Authors: Chen, Diyu, Zuo, Yangjin, Zhang, Xinhua, Ye, Yuhua, Bao, Xiuqin, Huang, Haiyan, Tepakhan, Wanicha, Wang, Lijuan, Ju, Junyi, Chen, Guangfu, Zheng, Mincui, Liu, Dun, Huang, Shuodan, Zong, Lu, Li, Changgang, Chen, Yajun, Zheng, Chenguang, Shi, Lihong, Zhao, Quan, Wu, Qiang, Fucharoen, Supan, Zhao, Cunyou, Xu, Xiangmin
Format: Artigo
Language:Inglês
Published: Elsevier 2017
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5501772/
https://ncbi.nlm.nih.gov/pubmed/28669403
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.05.012
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