Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees
同一家族中,不同的突变以不同的遗传方式导致了相似的视网膜营养不良:这表明在复杂的家系研究中进行基因注释的重要性。
期刊:Journal of Translational Medicine
影响因子:7.5
doi:10.1186/s12967-018-1522-7
Chen, Xue; Sheng, Xunlun; Liu, Yani; Li, Zili; Sun, Xiantao; Jiang, Chao; Qi, Rui; Yuan, Shiqin; Wang, Xuhui; Zhou, Ge; Zhen, Yanyan; Xie, Ping; Liu, Qinghuai; Yan, Biao; Zhao, Chen