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  • Prevalence and genetic–phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease

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Clinical science
Prevalence and genetic–phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease

Authors

  • Feng-Juan Gao Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shang Hai, China Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shang Hai, China Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shang Hai, China PubMed articlesGoogle scholar articles
  • Dan-Dan Wang Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shang Hai, China Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shang Hai, China Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shang Hai, China PubMed articlesGoogle scholar articles
  • Fang Chen Laboratory of Genomics and Molecular Biomedicine, Department of Biology, University of Copenhagen, Copenhagen, Denmark Shenzhen Engineering Laboratory for Birth Defects Screening, BGI-Shenzhen, Shenzhen, China BGI-Shenzhen, Shenzhen, China PubMed articlesGoogle scholar articles
  • Hao-Xiang Sun Sonoma Academy, Santa Rosa, CA PubMed articlesGoogle scholar articles
  • Fang-Yuan Hu Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shang Hai, China Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shang Hai, China Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shang Hai, China PubMed articlesGoogle scholar articles
  • Ping Xu Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shang Hai, China Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shang Hai, China Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shang Hai, China PubMed articlesGoogle scholar articles
  • Jiankang Li BGI-Shenzhen, Shenzhen, China Dept of Computer Science, City University of Hong Kong, Hong Kong, China PubMed articlesGoogle scholar articles
  • Wei Liu Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shang Hai, China Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shang Hai, China Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shang Hai, China PubMed articlesGoogle scholar articles
  • Yu-He Qi Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shang Hai, China Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shang Hai, China Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shang Hai, China PubMed articlesGoogle scholar articles
  • Wei Li BGI-Shenzhen, Shenzhen, China BGI Education Center, University of Chinese Academy of Sciences, Shenzhen, China PubMed articlesGoogle scholar articles
  • Ming Wang Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shang Hai, China Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shang Hai, China Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shang Hai, China PubMed articlesGoogle scholar articles
  • Shenghai Zhang Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shang Hai, China Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shang Hai, China Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shang Hai, China PubMed articlesGoogle scholar articles
  • Ge-Zhi Xu Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shang Hai, China Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shang Hai, China Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shang Hai, China PubMed articlesGoogle scholar articles
  • Qing Chang Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shang Hai, China Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shang Hai, China Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shang Hai, China PubMed articlesGoogle scholar articles
  • Ji-Hong Wu Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shang Hai, China Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shang Hai, China Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shang Hai, China PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Ji-Hong Wu, Ophthalmology, Shanghai, China; jihongwu{at}fudan.edu.cn
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Citation

Gao F, Wang D, Chen F, et al
Prevalence and genetic–phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease
British Journal of Ophthalmology 2021;105:87-92.

Publication history

  • Received January 15, 2020
  • Revised February 27, 2020
  • Accepted February 29, 2020
  • First published March 18, 2020.
Online issue publication 
December 11, 2020

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© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.