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Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy.
Xu, Hongliang; Ji, Tuo; Lian, Yajun; Wang, Shuya; Chen, Xin; Li, Shuang; Yin, Yuhui; Dong, Xiubing.
Afiliación
  • Xu H; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1 Jianshe East Road, Zhengzhou, 450052, Henan Province, People's Republic of China.
  • Ji T; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1 Jianshe East Road, Zhengzhou, 450052, Henan Province, People's Republic of China.
  • Lian Y; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1 Jianshe East Road, Zhengzhou, 450052, Henan Province, People's Republic of China. lianyajun369@sina.com.
  • Wang S; Department of Blood Transfusion, The First Affiliated Hospital of Zhengzhou University, No. 1 Jianshe East Road, Zhengzhou, 450052, Henan Province, People's Republic of China.
  • Chen X; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1 Jianshe East Road, Zhengzhou, 450052, Henan Province, People's Republic of China.
  • Li S; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1 Jianshe East Road, Zhengzhou, 450052, Henan Province, People's Republic of China.
  • Yin Y; Department of Pathology, The First Affiliated Hospital of Zhengzhou University, No. 1 Jianshe East Road, Zhengzhou, 450052, Henan Province, People's Republic of China.
  • Dong X; Electron Microscopy Laboratory of Renal Pathology, The First Affiliated Hospital of Zhengzhou University, No. 1 Jianshe East Road, Zhengzhou, 450052, Henan Province, People's Republic of China.
Hum Genet ; 138(7): 749-756, 2019 Jul.
Article en En | MEDLINE | ID: mdl-31079202
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías / Deformidades del Pie / Complejo IV de Transporte de Electrones / Neuropatía Axonal Gigante / Mutación Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Hum Genet Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías / Deformidades del Pie / Complejo IV de Transporte de Electrones / Neuropatía Axonal Gigante / Mutación Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Hum Genet Año: 2019 Tipo del documento: Article