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Novel SCN9A missense mutations contribute to congenital insensitivity to pain: Unexpected correlation between electrophysiological characterization and clinical phenotype.
Sun, Jiaoli; Li, Lulu; Yang, Luyao; Duan, Guangyou; Ma, Tingbin; Li, Ningbo; Liu, Yi; Yao, Jing; Liu, Jing Yu; Zhang, Xianwei.
Afiliação
  • Sun J; Department of Anesthesiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People's Republic of China.
  • Li L; Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, People's Republic of China.
  • Yang L; Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, People's Republic of China.
  • Duan G; Department of Anesthesiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People's Republic of China.
  • Ma T; Department of Anesthesiology, The Second Affiliated Hospital, Chongqing Medical University, Chongqing, People's Republic of China.
  • Li N; Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, People's Republic of China.
  • Liu Y; Department of Anesthesiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People's Republic of China.
  • Yao J; Department of Anesthesiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People's Republic of China.
  • Liu JY; College of Life Sciences, Wuhan University, Wuhan, People's Republic of China.
  • Zhang X; Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, People's Republic of China.
Mol Pain ; 16: 1744806920923881, 2020.
Article em En | MEDLINE | ID: mdl-32420800
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Insensibilidade Congênita à Dor / Predisposição Genética para Doença / Mutação de Sentido Incorreto / Canal de Sódio Disparado por Voltagem NAV1.7 Limite: Child, preschool / Female / Humans / Male Idioma: En Revista: Mol Pain Assunto da revista: BIOLOGIA MOLECULAR / NEUROLOGIA / PSICOFISIOLOGIA Ano de publicação: 2020 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Insensibilidade Congênita à Dor / Predisposição Genética para Doença / Mutação de Sentido Incorreto / Canal de Sódio Disparado por Voltagem NAV1.7 Limite: Child, preschool / Female / Humans / Male Idioma: En Revista: Mol Pain Assunto da revista: BIOLOGIA MOLECULAR / NEUROLOGIA / PSICOFISIOLOGIA Ano de publicação: 2020 Tipo de documento: Article