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Lysosomal storage disease in the brain: mutations of the ß-mannosidase gene identified in autosomal dominant nystagmus.
Yu, Ping; Cui, Yun; Cai, Wanshi; Wu, Honghu; Xiao, Xiaoqiang; Shao, Qianzhi; Ma, Liang; Guo, Sen; Wu, Nana; Jin, Zi-Bing; Wang, Yongjin; Cai, Tao; Sun, Zhong Sheng; Qu, Jia.
Afiliación
  • Yu P; The Institute of Genomic Medicine, Wenzhou Medical University, Zhejiang, China.
  • Cui Y; Department of Ophthalmology, Heping Hospital, Changzhi Medical College, Shanxi, China.
  • Cai W; Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing, China.
  • Wu H; The Institute of Genomic Medicine, Wenzhou Medical University, Zhejiang, China.
  • Xiao X; The Institute of Genomic Medicine, Wenzhou Medical University, Zhejiang, China.
  • Shao Q; The Institute of Genomic Medicine, Wenzhou Medical University, Zhejiang, China.
  • Ma L; Department of Ophthalmology, Heping Hospital, Changzhi Medical College, Shanxi, China.
  • Guo S; The Institute of Genomic Medicine, Wenzhou Medical University, Zhejiang, China.
  • Wu N; The Institute of Genomic Medicine, Wenzhou Medical University, Zhejiang, China.
  • Jin ZB; State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Wenzhou, Zhejiang, China.
  • Wang Y; Department of Ophthalmology, Heping Hospital, Changzhi Medical College, Shanxi, China.
  • Cai T; Experimental Medicine Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, USA.
  • Sun ZS; The Institute of Genomic Medicine, Wenzhou Medical University, Zhejiang, China.
  • Qu J; Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing, China.
Genet Med ; 17(12): 971-9, 2015 Dec.
Article en En | MEDLINE | ID: mdl-25741867
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Nistagmo Congénito / Beta-Manosidasa / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Nistagmo Congénito / Beta-Manosidasa / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: China