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A novel compound heterozygous EPM2A mutation in a Chinese boy with Lafora disease.
Fu, Yujiao; Zhou, Chaojun; Song, Rui; Peng, Jinxin; Yang, Xiaosu; Xiao, Bo; Zhou, Jinxia; Long, Hongyu.
Afiliación
  • Fu Y; Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China.
  • Zhou C; Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China.
  • Song R; Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China.
  • Peng J; Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China.
  • Yang X; Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China.
  • Xiao B; Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China.
  • Zhou J; Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China. 405782@csu.edu.cn.
  • Long H; Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China. longhongyu@csu.edu.cn.
Neurol Sci ; 41(8): 2267-2270, 2020 Aug.
Article en En | MEDLINE | ID: mdl-32342326
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Lafora Límite: Adolescent / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Neurol Sci Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Lafora Límite: Adolescent / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Neurol Sci Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article