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A novel de novo TSC2 nonsense mutation detected in a pediatric patient with tuberous sclerosis complex.
Yang, Mei-Hua; Wang, Zhong-Ke; Huang, Yi; Lv, Sheng-Qing; Zhang, Chun-Qing; Zhu, Yuan-Yuan; Yang, Qing-Wu; Liu, Shi-Yong.
Afiliação
  • Yang MH; Epilepsy Center of PLA, Department of Neurosurgery, Xinqiao Hospital, Army Medical University, Chongqing, 400037, People's Republic of China.
  • Wang ZK; Epilepsy Center of PLA, Department of Neurosurgery, Xinqiao Hospital, Army Medical University, Chongqing, 400037, People's Republic of China.
  • Huang Y; Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400014, People's Republic of China.
  • Lv SQ; Epilepsy Center of PLA, Department of Neurosurgery, Xinqiao Hospital, Army Medical University, Chongqing, 400037, People's Republic of China.
  • Zhang CQ; Epilepsy Center of PLA, Department of Neurosurgery, Xinqiao Hospital, Army Medical University, Chongqing, 400037, People's Republic of China.
  • Zhu YY; Aegicare (Shenzhen) Technology Co., Ltd, Shenzhen, 518060, Guangdong, People's Republic of China.
  • Yang QW; Epilepsy Center of PLA, Department of Neurosurgery, Xinqiao Hospital, Army Medical University, Chongqing, 400037, People's Republic of China. yangqwmlys@163.com.
  • Liu SY; Epilepsy Center of PLA, Department of Neurosurgery, Xinqiao Hospital, Army Medical University, Chongqing, 400037, People's Republic of China. liushi24252016@163.com.
Childs Nerv Syst ; 37(1): 253-257, 2021 01.
Article em En | MEDLINE | ID: mdl-32533299
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Esclerose Tuberosa / Códon sem Sentido Tipo de estudo: Guideline Limite: Child / Humans Idioma: En Revista: Childs Nerv Syst Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Esclerose Tuberosa / Códon sem Sentido Tipo de estudo: Guideline Limite: Child / Humans Idioma: En Revista: Childs Nerv Syst Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2021 Tipo de documento: Article