Targeted Next-Generation Sequencing Reveals Novel USH2A Mutations Associated with Diverse Disease Phenotypes: Implications for Clinical and Molecular Diagnosis

Xue Chen; Xunlun Sheng; Xiaoxing Liu; Huiping Li; Yani Liu; Weining Rong; Shaoping Ha; Wenzhou Liu; Xiaoli Kang; Kanxing Zhao; Chen Zhao

doi:10.1371/journal.pone.0105439

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Open Access

Peer-reviewed

Research Article

Targeted Next-Generation Sequencing Reveals Novel USH2A Mutations Associated with Diverse Disease Phenotypes: Implications for Clinical and Molecular Diagnosis

Xue Chen ,

Contributed equally to this work with: Xue Chen, Xunlun Sheng, Xiaoxing Liu

Affiliation Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing, China
⨯
Xunlun Sheng ,

Contributed equally to this work with: Xue Chen, Xunlun Sheng, Xiaoxing Liu

Affiliation Ningxia Eye Hospital, Ningxia People’s Hospital, Ningxia, China
⨯
Xiaoxing Liu ,

Contributed equally to this work with: Xue Chen, Xunlun Sheng, Xiaoxing Liu

Affiliation Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing, China
⨯
Huiping Li,

Affiliation Ningxia Eye Hospital, Ningxia People’s Hospital, Ningxia, China
⨯
Yani Liu,

Affiliation Ningxia Eye Hospital, Ningxia People’s Hospital, Ningxia, China
⨯
Weining Rong,

Affiliation Ningxia Eye Hospital, Ningxia People’s Hospital, Ningxia, China
⨯
Shaoping Ha,

Affiliation Ningxia Eye Hospital, Ningxia People’s Hospital, Ningxia, China
⨯
Wenzhou Liu,

Affiliation Ningxia Eye Hospital, Ningxia People’s Hospital, Ningxia, China
⨯
Xiaoli Kang,

Affiliation Department of Ophthalmology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
⨯
Kanxing Zhao,

Affiliation Tianjin Medical University, Tianjin Eye Hospital, Tianjin Key Laboratory of Ophthalmology and Visual Science, Tianjin, China
⨯
Chen Zhao

* E-mail: dr.zhaochen@gmail.com

Affiliations Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing, China, State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
⨯

Targeted Next-Generation Sequencing Reveals Novel USH2A Mutations Associated with Diverse Disease Phenotypes: Implications for Clinical and Molecular Diagnosis

Xue Chen,
Xunlun Sheng,
Xiaoxing Liu,
Huiping Li,
Yani Liu,
Weining Rong,
Shaoping Ha,
Wenzhou Liu,
Xiaoli Kang,
Kanxing Zhao

Published: August 18, 2014
https://doi.org/10.1371/journal.pone.0105439

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Nonsense mutation
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Retinitis pigmentosa
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