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Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
Zhou, Yu; Saikia, Bibhuti B; Jiang, Zhilin; Zhu, Xiong; Liu, Yuqing; Huang, Lulin; Kim, Ramasamy; Yang, Yin; Qu, Chao; Hao, Fang; Gong, Bo; Tai, Zhengfu; Niu, Lihong; Yang, Zhenglin; Sundaresan, Periasamy; Zhu, Xianjun.
Afiliação
  • Zhou Y; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China.
  • Saikia BB; Medicine Information Center Department, Medicine Information Center, School of Medicine, University of Electronic Science and Technology of China, Sichuan, China.
  • Jiang Z; Natural Products Department, Chengdu Institute of Biology, Chinese Academy of Sciences and Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, Sichuan, China.
  • Zhu X; Key Laboratory for NeuroInformation of Ministry of Education University of Electronic Science and Technology of China, Sichuan, China.
  • Liu Y; Department of Genetics, Aravind Medical Research Foundation, Aravind Eye Hospital, Tamilnadu, India.
  • Huang L; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China.
  • Kim R; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China.
  • Yang Y; Medicine Information Center Department, Medicine Information Center, School of Medicine, University of Electronic Science and Technology of China, Sichuan, China.
  • Qu C; Natural Products Department, Chengdu Institute of Biology, Chinese Academy of Sciences and Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, Sichuan, China.
  • Hao F; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China.
  • Gong B; Medicine Information Center Department, Medicine Information Center, School of Medicine, University of Electronic Science and Technology of China, Sichuan, China.
  • Tai Z; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China.
  • Niu L; Medicine Information Center Department, Medicine Information Center, School of Medicine, University of Electronic Science and Technology of China, Sichuan, China.
  • Yang Z; Key Laboratory for NeuroInformation of Ministry of Education University of Electronic Science and Technology of China, Sichuan, China.
  • Sundaresan P; Retina-Vitreous Services, Aravind Eye Hospital, Tamilnadu, India.
  • Zhu X; Department of Ophthalmology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Sichuan, China.
J Hum Genet ; 60(10): 625-30, 2015 Oct.
Article em En | MEDLINE | ID: mdl-26246154
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Linhagem / Retinose Pigmentar / Mutação da Fase de Leitura / Proteínas do Olho / Exoma / Homozigoto País/Região como assunto: Asia Idioma: En Ano de publicação: 2015 Tipo de documento: Article País de afiliação: China
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Linhagem / Retinose Pigmentar / Mutação da Fase de Leitura / Proteínas do Olho / Exoma / Homozigoto País/Região como assunto: Asia Idioma: En Ano de publicação: 2015 Tipo de documento: Article País de afiliação: China