Whole exome sequencing of stuttering and Charcot-Marie-Tooth disease

We used exome sequencing to identify mutations associated to stuttering and Charcot-Marie-Tooth disease in a trio-study.

本研究采用三人家系研究（trio-study）设计，通过外显子组测序（exome sequencing）技术，鉴定与口吃（stuttering）及腓骨肌萎缩症（Charcot-Marie-Tooth disease）相关的突变。