Identification and characterization of a novel intronic splicing mutation in CSF1R-related leukoencephalopathy.

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第一作者： Yilai,Han

第一单位： Department of Neurology, Xuanwu Hospital Capital Medical University, National Center for Neurological Disorders, Beijing, China.

作者： Yilai,Han ^[1] ; Jinming,Han ^[1] ; Zhen,Li ^[1] ; Siqi,Chen ^[1] ; Ju,Liu ^[2] ; Ruxing,Zhou ^[1] ; Shufang,Zhao ^[1] ; Dawei,Li ^[1] ; Zheng,Liu ^[1] ; Yinan,Zhao ^[1] ; Junwei,Hao ^[3] ; Guoliang,Chai ^[4]

作者单位： Department of Neurology, Xuanwu Hospital Capital Medical University, National Center for Neurological Disorders, Beijing, China. ^[1] Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China. ^[2] Department of Neurology, Xuanwu Hospital Capital Medical University, National Center for Neurological Disorders, Beijing, China.;Beijing Municipal Geriatric Medical Research Center, Beijing, China.;Key Laboratory for Neurodegenerative Diseases of Ministry of Education, Beijing, China. ^[3] Department of Neurology, Xuanwu Hospital Capital Medical University, National Center for Neurological Disorders, Beijing, China.;Beijing Municipal Geriatric Medical Research Center, Beijing, China.;Chinese Institutes for Medical Research, Beijing, China. ^[4]

关键词 CSF1R‐related leukoencephalopathy RNA splicing exon skipping intronic mutation