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A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome.
Lou, Xiaoting; Shi, Hao; Wen, Shumeng; Li, Yuanyuan; Wei, Xiujuan; Xie, Jie; Ma, Lin; Yang, Yanling; Fang, Hezhi; Lyu, Jianxin.
Afiliação
  • Lou X; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life sciences, Wenzhou Medical University, 325035, Wenzhou, Zhejiang, China.
  • Shi H; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life sciences, Wenzhou Medical University, 325035, Wenzhou, Zhejiang, China.
  • Wen S; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life sciences, Wenzhou Medical University, 325035, Wenzhou, Zhejiang, China.
  • Li Y; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life sciences, Wenzhou Medical University, 325035, Wenzhou, Zhejiang, China.
  • Wei X; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life sciences, Wenzhou Medical University, 325035, Wenzhou, Zhejiang, China.
  • Xie J; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life sciences, Wenzhou Medical University, 325035, Wenzhou, Zhejiang, China.
  • Ma L; Department of Clinical Laboratory, The First Affiliated Hospital of Zhengzhou University, Key Clinical Laboratory of Henan, ProvinceZhengzhou, Henan, China.
  • Yang Y; Department of Pediatrics, Peking University First Hospital, 100034, Beijing, China. organic.acid@126.com.
  • Fang H; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life sciences, Wenzhou Medical University, 325035, Wenzhou, Zhejiang, China. FangH@wmu.edu.cn.
  • Lyu J; Zhejiang Provincial People's Hospital, Affiliated People's Hospital of Hangzhou Medical College, 310053, Hangzhou, Zhejiang, China.
J Hum Genet ; 63(12): 1269-1272, 2018 Dec.
Article em En | MEDLINE | ID: mdl-30140060
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Leigh / Mutação de Sentido Incorreto / NADH Desidrogenase Tipo de estudo: Prognostic_studies Limite: Humans / Infant / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Leigh / Mutação de Sentido Incorreto / NADH Desidrogenase Tipo de estudo: Prognostic_studies Limite: Humans / Infant / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China