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N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.
Ke, Qing; Ye, Jia; Tang, Siyang; Wang, Jin; Luo, Benyan; Ji, Fang; Zhang, Xu; Yu, Ye; Cheng, Xiaoyang; Li, Yuezhou.
Afiliação
  • Ke Q; Department of Neurology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
  • Ye J; Department of Physiology, Institute of Neuroscience, Key Laboratory of Medical Neurobiology of Ministry of Health of China, Zhejiang Province Key Laboratory of Tissue Engineering and Regenerative Medicine, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
  • Tang S; Department of Physiology, Institute of Neuroscience, Key Laboratory of Medical Neurobiology of Ministry of Health of China, Zhejiang Province Key Laboratory of Tissue Engineering and Regenerative Medicine, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
  • Wang J; Institute of Medical Sciences and Department of Pharmacology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Luo B; Department of Neurology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
  • Ji F; Department of Neurology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
  • Zhang X; Bejing Epigen Medical Institute, Beijing, China.
  • Yu Y; Institute of Medical Sciences and Department of Pharmacology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Cheng X; Department of Anatomy, Histology and Embryology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Li Y; Department of Physiology, Institute of Neuroscience, Key Laboratory of Medical Neurobiology of Ministry of Health of China, Zhejiang Province Key Laboratory of Tissue Engineering and Regenerative Medicine, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
J Physiol ; 595(22): 6837-6850, 2017 11 15.
Article em En | MEDLINE | ID: mdl-28940424

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ativação do Canal Iônico / Transtornos Miotônicos / Canal de Sódio Disparado por Voltagem NAV1.4 / Mutação com Ganho de Função Tipo de estudo: Etiology_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: J Physiol Ano de publicação: 2017 Tipo de documento: Article País de afiliação: China País de publicação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ativação do Canal Iônico / Transtornos Miotônicos / Canal de Sódio Disparado por Voltagem NAV1.4 / Mutação com Ganho de Função Tipo de estudo: Etiology_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: J Physiol Ano de publicação: 2017 Tipo de documento: Article País de afiliação: China País de publicação: Reino Unido