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Heterozygote loss-of-function variants in the LRP5 gene cause familial exudative vitreoretinopathy.
Zhao, Rulian; Wang, Shiyuan; Zhao, Peiquan; Dai, Erkuan; Zhang, Xiang; Peng, Li; He, Yunqi; Yang, Mu; Li, Shujin; Yang, Zhenglin.
Afiliação
  • Zhao R; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
  • Wang S; Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.
  • Zhao P; Ophthalmology, Shanghai Jiaotong University School of Medicine Xinhua Hospital, Shanghai, China.
  • Dai E; Ophthalmology, Shanghai Jiaotong University School of Medicine Xinhua Hospital, Shanghai, China.
  • Zhang X; Ophthalmology, Shanghai Jiaotong University School of Medicine Xinhua Hospital, Shanghai, China.
  • Peng L; Ophthalmology, Shanghai Jiaotong University School of Medicine Xinhua Hospital, Shanghai, China.
  • He Y; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
  • Yang M; Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.
  • Li S; Natural Products Research Center, Institute of Chengdu Biology, Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.
  • Yang Z; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Clin Exp Ophthalmol ; 50(4): 441-448, 2022 05.
Article em En | MEDLINE | ID: mdl-35133048
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Beta Catenina Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Clin Exp Ophthalmol Assunto da revista: OFTALMOLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Beta Catenina Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Clin Exp Ophthalmol Assunto da revista: OFTALMOLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China