An unusual case of thalassemia intermedia with inheritable complex repeats detected by single-molecule optical mapping.
作者信息
Zhang Qianqian, Lin Peng, Mao Aiping, Liu Yongqiong, Shang Xuan, Wei Xiaofeng, Li Yuezhen, Lin Bin, Xu Xiangmin
机构信息
Department of Medical Genetics, School of Basic Medical Sciences; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong, China; Dongguan Maternal and Child Health Care Hospital, Postdoctoral Innovation Practice Base of Southern Medical University; Prenatal Diagnosis Center, Dongguan Maternal and Child Health Care Hospital, Dongguan 523001, Guangdong.
Department of TGS Research and Development, Berry Genomics Corporation, Beijing 102200.
出版信息
Haematologica. 2024 Mar 1;109(3):1000-1006. doi: 10.3324/haematol.2023.282902.
Abstract
摘要
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