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The biochemical characterization of a missense mutation m.8914C>T in ATP6 gene associated with mitochondrial encephalomyopathy.
Guo, Ya; Zhang, Yu; Li, Fei; Liu, Peipei; Liu, Yedan; Yang, Chengqing; Song, Jie; Zhang, Na; Chen, Zongbo.
Afiliación
  • Guo Y; Pediatric Department of the Affiliated Hospital of Qingdao University, No. 16 Jiangsu Road, Shandong, 266000, PR China. Electronic address: guoyaqingda@126.com.
  • Zhang Y; Ophthalmology Department of Qingdao Municipal Hospital, No. 1 Jiaozhou Road, Shandong, 266000, PR China. Electronic address: zhangyu2016shili@sina.com.
  • Li F; Pediatric Department of the Affiliated Hospital of Qingdao University, No. 16 Jiangsu Road, Shandong, 266000, PR China. Electronic address: lifei0615a@126.com.
  • Liu P; Pediatric Department of the Affiliated Hospital of Qingdao University, No. 16 Jiangsu Road, Shandong, 266000, PR China. Electronic address: lqq-800@163.com.
  • Liu Y; Pediatric Department of the Affiliated Hospital of Qingdao University, No. 16 Jiangsu Road, Shandong, 266000, PR China. Electronic address: liuyedan1010@126.com.
  • Yang C; Pediatric Department of the Affiliated Hospital of Qingdao University, No. 16 Jiangsu Road, Shandong, 266000, PR China. Electronic address: chengqingy1988@126.com.
  • Song J; Pediatric Department of the Affiliated Hospital of Qingdao University, No. 16 Jiangsu Road, Shandong, 266000, PR China. Electronic address: songjie838369595@126.com.
  • Zhang N; Pediatric Department of the Affiliated Hospital of Qingdao University, No. 16 Jiangsu Road, Shandong, 266000, PR China. Electronic address: zhangna20307@163.com.
  • Chen Z; Pediatric Department of the Affiliated Hospital of Qingdao University, No. 16 Jiangsu Road, Shandong, 266000, PR China. Electronic address: drchen001cls@126.com.
Int J Dev Neurosci ; 71: 172-174, 2018 Dec.
Article en En | MEDLINE | ID: mdl-30273650
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalomiopatías Mitocondriales / Mutación Missense / ATPasas de Translocación de Protón Mitocondriales Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Humans / Male Idioma: En Revista: Int J Dev Neurosci Año: 2018 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalomiopatías Mitocondriales / Mutación Missense / ATPasas de Translocación de Protón Mitocondriales Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Humans / Male Idioma: En Revista: Int J Dev Neurosci Año: 2018 Tipo del documento: Article Pais de publicación: Estados Unidos