Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis
通过全外显子组测序和功能分析鉴定出与中国家族中先天性白内障相关的新型 MIP 移码突变
期刊:Eye (Lond)
影响因子:
doi:10.1038/s41433-018-0084-5
Xigui Long, Yanru Huang, Hu Tan, Zhuo Li, Rui Zhang, Siyuan Linpeng, Weigang Lv, Yingxi Cao, Haoxian Li, Desheng Liang, Lingqian Wu