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Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy.
Dong, Hai-Lin; Ma, Yin; Yu, Hao; Wei, Qiao; Li, Jia-Qi; Liu, Gong-Lu; Li, Hong-Fu; Chen, Lei; Chen, Dian-Fu; Bai, Ge; Wu, Zhi-Ying.
Afiliación
  • Dong HL; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 310009, Hangzhou, China.
  • Ma Y; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 310009, Hangzhou, China.
  • Yu H; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 310009, Hangzhou, China.
  • Wei Q; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 310009, Hangzhou, China.
  • Li JQ; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 310009, Hangzhou, China.
  • Liu GL; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 310009, Hangzhou, China.
  • Li HF; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 310009, Hangzhou, China.
  • Chen L; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 310009, Hangzhou, China.
  • Chen DF; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 310009, Hangzhou, China.
  • Bai G; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 310009, Hangzhou, China.
  • Wu ZY; NHC and CAMS Key Laboratory of Medical Neurobiology, MOE Frontier Science Center for Brain Research and Brain-Machine Integration, School of Brain Science and Brain Medicine, Zhejiang University, Hangzhou, China.
Brain ; 144(8): 2457-2470, 2021 09 04.
Article en En | MEDLINE | ID: mdl-33751098
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neuropatías Hereditarias Sensoriales y Autónomas / Complejo IV de Transporte de Electrones / Pérdida de Heterocigocidad / Deficiencia de Citocromo-c Oxidasa / Mitocondrias Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Año: 2021 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neuropatías Hereditarias Sensoriales y Autónomas / Complejo IV de Transporte de Electrones / Pérdida de Heterocigocidad / Deficiencia de Citocromo-c Oxidasa / Mitocondrias Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Año: 2021 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido