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The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.
Yu, Jiaxi; Shan, Jingli; Yu, Meng; Di, Li; Xie, Zhiying; Zhang, Wei; Lv, He; Meng, Lingchao; Zheng, Yiming; Zhao, Yawen; Gang, Qiang; Guo, Xueyu; Wang, Yang; Xi, Jianying; Zhu, Wenhua; Da, Yuwei; Hong, Daojun; Yuan, Yun; Yan, Chuanzhu; Wang, Zhaoxia; Deng, Jianwen.
Afiliación
  • Yu J; Department of Neurology, Peking University First Hospital, Beijing, 100034, China; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China.
  • Shan J; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Shandong University, Jinan, 250012, China, Mitochondrial Medicine Laboratory, Qilu Hospital (Qingdao), Shandong University, Qingdao, China, Brain Science Research Institute, Shandong Univer
  • Yu M; Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
  • Di L; Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, 100053, China.
  • Xie Z; Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
  • Zhang W; Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
  • Lv H; Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
  • Meng L; Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
  • Zheng Y; Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
  • Zhao Y; Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
  • Gang Q; Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
  • Guo X; Grandomics Biosciences, Beijing, 100000, China.
  • Wang Y; Grandomics Biosciences, Beijing, 100000, China.
  • Xi J; Department of Neurology, Huashan Hospital Fudan University, Shanghai, 200040, China.
  • Zhu W; Department of Neurology, Huashan Hospital Fudan University, Shanghai, 200040, China.
  • Da Y; Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, 100053, China.
  • Hong D; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China.
  • Yuan Y; Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
  • Yan C; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Shandong University, Jinan, 250012, China, Mitochondrial Medicine Laboratory, Qilu Hospital (Qingdao), Shandong University, Qingdao, China, Brain Science Research Institute, Shandong Univer
  • Wang Z; Department of Neurology, Peking University First Hospital, Beijing, 100034, China; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China. Electronic address: drwangzx@163.com.
  • Deng J; Department of Neurology, Peking University First Hospital, Beijing, 100034, China; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China. Electronic address: jianwendeng@pkufh.com.
Am J Hum Genet ; 109(3): 533-541, 2022 03 03.
Article en En | MEDLINE | ID: mdl-35148830
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Expansión de Repetición de Trinucleótido / Distrofias Musculares Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: China
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Expansión de Repetición de Trinucleótido / Distrofias Musculares Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: China