RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease
在散发性CDA III病例中发现的RACGAP1变异提示中心纺锤体蛋白功能障碍是该疾病的病因。
期刊:Blood
影响因子:23.1
doi:10.1182/blood.2021012334
Wontakal, Sandeep N; Britto, Mishan; Zhang, Huan; Han, Yongshuai; Gao, Chengjie; Tannenbaum, Sarah; Durham, Benjamin H; Lee, Margaret T; An, Xiuli; Mishima, Masanori