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A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family.
Wang, Binghao; Li, Xiaobo; Huang, Shunxiang; Zhao, Huadong; Liu, Jun; Hu, Zhengmao; Lin, Zhiqiang; Liu, Lei; Xie, Yongzhi; Jin, Qingwen; Zhao, Huihui; Tang, Beisha; Niu, Qi; Zhang, Ruxu.
Afiliação
  • Wang B; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Li X; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Huang S; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Zhao H; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Liu J; Department of Radiology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Hu Z; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
  • Lin Z; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Liu L; Health Management Center, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Xie Y; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Jin Q; Department of Neurology, The Affiliated Sir Run Run Hospital of Nanjing Medical University, Nanjing, China.
  • Zhao H; Department of Geriatric Neurology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
  • Tang B; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China.
  • Niu Q; Department of Geriatric Neurology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
  • Zhang R; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Clin Genet ; 96(2): 176-182, 2019 08.
Article em En | MEDLINE | ID: mdl-31069783

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Triptofano-tRNA Ligase / Neuropatia Hereditária Motora e Sensorial / Predisposição Genética para Doença / Estudos de Associação Genética / Mutação Tipo de estudo: Guideline / Prognostic_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Genet Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Triptofano-tRNA Ligase / Neuropatia Hereditária Motora e Sensorial / Predisposição Genética para Doença / Estudos de Associação Genética / Mutação Tipo de estudo: Guideline / Prognostic_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Genet Ano de publicação: 2019 Tipo de documento: Article