Exome Sequencing Analysis Identifies Compound Heterozygous Mutation in ABCA4 in a Chinese Family with Stargardt Disease

• Yu Zhou ,

  Contributed equally to this work with: Yu Zhou, Siyu Tao

  Affiliations Sichuan Provincial Key Laboratory for Human Disease Gene Study and Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China, Chengdu Institute of Biology, Chinese Academy of Sciences and Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, Chengdu, Sichuan, China

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• Siyu Tao ,

  Contributed equally to this work with: Yu Zhou, Siyu Tao

  Affiliation Henan Eye Hospital and Henan Eye Institute, People’s Hospital of Zhengzhou University, Zhengzhou, Henan, China

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• Hui Chen,

  Affiliations Department of Ophthalmology, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu, Sichuan, China, Laboratory Animal Institute, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu, Sichuan, China

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• Lulin Huang,

  Affiliations Sichuan Provincial Key Laboratory for Human Disease Gene Study and Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China, Chengdu Institute of Biology, Chinese Academy of Sciences and Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, Chengdu, Sichuan, China

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• Xiong Zhu,

  Affiliations Sichuan Provincial Key Laboratory for Human Disease Gene Study and Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China, Chengdu Institute of Biology, Chinese Academy of Sciences and Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, Chengdu, Sichuan, China

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• Youping Li,

  Affiliations Sichuan Provincial Key Laboratory for Human Disease Gene Study and Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China

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• Zhili Wang,

  Affiliation Henan Eye Hospital and Henan Eye Institute, People’s Hospital of Zhengzhou University, Zhengzhou, Henan, China

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• He Lin,

  Affiliations Sichuan Provincial Key Laboratory for Human Disease Gene Study and Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China

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• Fang Hao,

  Affiliations Sichuan Provincial Key Laboratory for Human Disease Gene Study and Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China

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• Zhenglin Yang,

  Affiliations Sichuan Provincial Key Laboratory for Human Disease Gene Study and Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China, Chengdu Institute of Biology, Chinese Academy of Sciences and Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, Chengdu, Sichuan, China, Key Laboratory for NeuroInformation of Ministry of Education, University of Electronic Science and Technology of China, Chengdu, Sichuan, China

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• Liya Wang ,

  * E-mail: xjzhu2@gmail.com (XZ); wangliya55@126.com (LW)

  Affiliation Henan Eye Hospital and Henan Eye Institute, People’s Hospital of Zhengzhou University, Zhengzhou, Henan, China

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• Xianjun Zhu

  * E-mail: xjzhu2@gmail.com (XZ); wangliya55@126.com (LW)

  Affiliations Sichuan Provincial Key Laboratory for Human Disease Gene Study and Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China, Chengdu Institute of Biology, Chinese Academy of Sciences and Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, Chengdu, Sichuan, China, Key Laboratory for NeuroInformation of Ministry of Education, University of Electronic Science and Technology of China, Chengdu, Sichuan, China, College of Life Sciences and Engineering, Xinan Jiaotong University, Chengdu, Sichuan, China

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