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A novel mitochondrial m.14430A>G (MT-ND6, p.W82R) variant causes complex I deficiency and mitochondrial Leigh syndrome.
Du, Miaomiao; Wei, Xiujuan; Xu, Pu; Xie, Anran; Zhou, Xiyue; Yang, Yanling; Li, Dongxiao; Lyu, Jianxin; Fang, Hezhi.
Afiliación
  • Du M; College of Laboratory Medicine, Hangzhou Medical College, Hangzhou, Zhejiang, P.R. China.
  • Wei X; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial, Key Laboratory of Medical Genetics, College of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Chashan, Wenzhou, Zhejiang, P.R. China.
  • Xu P; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial, Key Laboratory of Medical Genetics, College of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Chashan, Wenzhou, Zhejiang, P.R. China.
  • Xie A; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial, Key Laboratory of Medical Genetics, College of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Chashan, Wenzhou, Zhejiang, P.R. China.
  • Zhou X; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial, Key Laboratory of Medical Genetics, College of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Chashan, Wenzhou, Zhejiang, P.R. China.
  • Yang Y; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial, Key Laboratory of Medical Genetics, College of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Chashan, Wenzhou, Zhejiang, P.R. China.
  • Li D; Department of Pediatrics, Peking University First Hospital, Beijing, P.R. China.
  • Lyu J; Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450003, Henan, P.R. China.
  • Fang H; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial, Key Laboratory of Medical Genetics, College of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Chashan, Wenzhou 325035, Zhejiang, P.R. China.
Clin Chem Lab Med ; 58(11): 1809-1817, 2020 10 25.
Article en En | MEDLINE | ID: mdl-32432562
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Leigh / NADH Deshidrogenasa Límite: Child, preschool / Humans / Male Idioma: En Revista: Clin Chem Lab Med Asunto de la revista: QUIMICA CLINICA / TECNICAS E PROCEDIMENTOS DE LABORATORIO Año: 2020 Tipo del documento: Article Pais de publicación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Leigh / NADH Deshidrogenasa Límite: Child, preschool / Humans / Male Idioma: En Revista: Clin Chem Lab Med Asunto de la revista: QUIMICA CLINICA / TECNICAS E PROCEDIMENTOS DE LABORATORIO Año: 2020 Tipo del documento: Article Pais de publicación: Alemania