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Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family.
Gong, Bo; Liu, Liping; Li, Zhiwei; Ye, Zimeng; Xiao, Ying; Zeng, Guangqun; Shi, Yi; Wang, Yumeng; Feng, Xiaoyun; Li, Xiulan; Hao, Fang; Liu, Xiaoqi; Qu, Chao; Li, Yuanfeng; Mu, Guoying; Yang, Zhenglin.
Afiliação
  • Gong B; Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
  • Liu L; Department of Ophthalmology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China.
  • Li Z; Department of Ophthalmology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China.
  • Ye Z; Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
  • Xiao Y; Department of Ophthalmology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China.
  • Zeng G; Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
  • Shi Y; Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
  • Wang Y; Department of Ophthalmology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China.
  • Feng X; Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
  • Li X; Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
  • Hao F; Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
  • Liu X; Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
  • Qu C; Department of Ophthalmology, School of Medicine, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
  • Li Y; Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
  • Mu G; Department of Ophthalmology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China.
  • Yang Z; Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Sci Rep ; 5: 17947, 2015 Dec 15.
Article em En | MEDLINE | ID: mdl-26667307
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cistationina beta-Sintase / Povo Asiático / Estudos de Associação Genética / Heterozigoto / Homocistinúria / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans País como assunto: Asia Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cistationina beta-Sintase / Povo Asiático / Estudos de Associação Genética / Heterozigoto / Homocistinúria / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans País como assunto: Asia Idioma: En Ano de publicação: 2015 Tipo de documento: Article