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C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot-Marie-Tooth disease in a knockout mouse model.
Huang, Cheng; Shen, Zong Rui; Huang, Jin; Sun, Shun Chang; Ma, Di; Li, Mei Yi; Wang, Zhi Kui; Zheng, Ying Chun; Zheng, Zhuo Jun; He, Fei; Xu, Xiaoyuan; Li, Ziang; Zheng, Bo Yang; Li, Yue Mao; Xu, Xiang Min; Xiong, Fu.
Afiliación
  • Huang C; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Shen ZR; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Huang J; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Sun SC; Department of Clinical Laboratory, Ruijin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Ma D; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Li MY; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Wang ZK; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Zheng YC; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Zheng ZJ; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • He F; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Xu X; Experimental Teaching Center for Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Li Z; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Zheng BY; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Li YM; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Xu XM; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Xiong F; Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou, Guangdong Province, P.R. China.
Hum Mol Genet ; 29(15): 2471-2480, 2020 08 29.
Article en En | MEDLINE | ID: mdl-32592472
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Discapacidades del Desarrollo / Sistemas de Lectura Abierta / Mortinato Límite: Animals / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Discapacidades del Desarrollo / Sistemas de Lectura Abierta / Mortinato Límite: Animals / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: China