The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS

• Xue Feng ,

  Contributed equally to this work with: Xue Feng, Tianying Wei

  Roles Methodology, Writing – original draft

  Affiliation Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, Hangzhou, Zhejiang, China

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• Tianying Wei ,

  Contributed equally to this work with: Xue Feng, Tianying Wei

  Roles Investigation, Methodology

  Affiliation Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, Hangzhou, Zhejiang, China

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• Junhui Sun,

  Roles Methodology

  Affiliation Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, Hangzhou, Zhejiang, China

  ⨯
• Yuqin Luo,

  Roles Methodology, Resources

  Affiliation Department of Reproductive Genetics, Women’s Hospital, School of Medicine Zhejiang University, Hangzhou, Zhejiang, China

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• Yanan Huo,

  Roles Investigation, Resources

  Affiliation Department of Eye Center, The Second Affiliated Hospital of School of Medicine Zhejiang University, Hangzhou, Zhejiang, China

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• Ping Yu,

  Roles Methodology, Writing – review & editing

  Affiliation Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, Hangzhou, Zhejiang, China

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• Jiao Chen,

  Roles Methodology

  Affiliation Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, Hangzhou, Zhejiang, China

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• Xiaoming Wei,

  Roles Data curation, Methodology

  Affiliation BGI-Wuhan, Wuhan, China

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• Ming Qi ,

  Roles Funding acquisition, Writing – review & editing

  * E-mail: yeyh1999@zju.edu.cn (YY); mingqi@zju.edu.cn (MQ)

  ¶‡ MQ and YY also contributed equally to this work

  Affiliation Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, Hangzhou, Zhejiang, China

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• Yinghui Ye

  Roles Funding acquisition, Writing – review & editing

  * E-mail: yeyh1999@zju.edu.cn (YY); mingqi@zju.edu.cn (MQ)

  ¶‡ MQ and YY also contributed equally to this work

  Affiliation Department of Reproductive Endocrinology, Key Laboratory of Reproductive Genetics, Ministry of Education, and Women’s Reproductive Health Laboratory of Zhejiang Province, Women’s Hospital School of Medicine Zhejiang University, Hangzhou, Zhejiang, China

  http://orcid.org/0000-0001-7520-3871

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