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A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report.
Xue, Yan-Yan; Cheng, Hao-Ling; Dong, Hai-Lin; Yin, Hou-Min; Yuan, Yun; Meng, Ling-Chao; Wu, Zhi-Ying; Yu, Hao.
Afiliação
  • Xue YY; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou, China.
  • Cheng HL; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou, China.
  • Dong HL; Department of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
  • Yin HM; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou, China.
  • Yuan Y; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou, China.
  • Meng LC; Department of Neurology, Peking University First Hospital, Beijing, China.
  • Wu ZY; Department of Neurology, Peking University First Hospital, Beijing, China.
  • Yu H; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou, China. zhiyingwu@zju.edu.cn.
BMC Neurol ; 21(1): 402, 2021 Oct 20.
Article em En | MEDLINE | ID: mdl-34666706

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth Tipo de estudo: Etiology_studies Limite: Adult / Humans / Male País/Região como assunto: Asia Idioma: En Revista: BMC Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2021 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: Doença de Charcot-Marie-Tooth Tipo de estudo: Etiology_studies Limite: Adult / Humans / Male País/Região como assunto: Asia Idioma: En Revista: BMC Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China País de publicação: Reino Unido