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Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO.
Lin, Yan; Du, Jixiang; Wang, Wei; Ren, Hong; Zhao, Dandan; Liu, Fuchen; Lin, Pengfei; Ji, Kunqian; Zhao, Yuying; Yan, Chuanzhu.
Afiliação
  • Lin Y; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China.
  • Du J; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China.
  • Wang W; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China.
  • Ren H; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China.
  • Zhao D; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China.
  • Liu F; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China.
  • Lin P; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China.
  • Ji K; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China. jikunqian@qq.com.
  • Zhao Y; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China.
  • Yan C; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China. czyan@sdu.edu.cn.
Neurol Sci ; 42(10): 4271-4280, 2021 Oct.
Article em En | MEDLINE | ID: mdl-34189666
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oftalmoplegia Externa Progressiva Crônica / DNA Polimerase Dirigida por DNA Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Neurol Sci Assunto da revista: NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oftalmoplegia Externa Progressiva Crônica / DNA Polimerase Dirigida por DNA Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Neurol Sci Assunto da revista: NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China