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A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.
Zhao, Rulian; Dai, Erkuan; Wang, Shiyuan; Zhang, Xiang; He, Yunqi; Peng, Li; Zhao, Peiquan; Yang, Zhenglin; Yang, Mu; Li, Shujin.
Afiliação
  • Zhao R; Sichuan Provincial Key Laboratory for Human Disease Gene Study and Center for Medical Genetics, Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
  • Dai E; Research Unit of Blindness Prevention, Chinese Academy of Medical Sciences (No.2019RU026), Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, China.
  • Wang S; Department of Ophthalmology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Zhang X; Department of Ophthalmology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • He Y; Department of Ophthalmology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Peng L; Sichuan Provincial Key Laboratory for Human Disease Gene Study and Center for Medical Genetics, Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
  • Zhao P; Research Unit of Blindness Prevention, Chinese Academy of Medical Sciences (No.2019RU026), Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, China.
  • Yang Z; Sichuan Provincial Key Laboratory for Human Disease Gene Study and Center for Medical Genetics, Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
  • Yang M; Department of Ophthalmology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Li S; Sichuan Provincial Key Laboratory for Human Disease Gene Study and Center for Medical Genetics, Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Clin Genet ; 103(3): 320-329, 2023 03.
Article em En | MEDLINE | ID: mdl-36453149
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Oftalmopatias Hereditárias Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Oftalmopatias Hereditárias Idioma: En Ano de publicação: 2023 Tipo de documento: Article