A novel non-sense mutation in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by bilateral upward gaze; report of a case and review of the literature
遗传学
先证者
桑格测序
外显子组测序
脊髓小脑共济失调
人口
突变
医学
生物
基因
环境卫生
作者
Sina Zoghi,Hossein Jafari Khamirani,Hamidreza Hassanipour,Pardis Bostanian,Reza Masoudian,Seyed Alireza Dastgheib