A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy
一项大型家系研究证实了 RILPL1 的 CGG 重复扩增与眼咽远端肌病有关
期刊:BMC Medical Genomics
影响因子:2.1
doi:10.1186/s12920-023-01586-9
Xinzhuang Yang #, Dingding Zhang #, Si Shen #, Pidong Li, Mengjie Li, Jingwen Niu, Dongrui Ma, Dan Xu, Shuangjie Li, Xueyu Guo, Zhen Wang, Yanhuan Zhao, Haitao Ren, Chao Ling, Yang Wang, Yu Fan, Jianxiong Shen, Yicheng Zhu, Depeng Wang, Liying Cui, Lin Chen, Changhe Shi, Yi Dai