A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration

Fang Lu; Lulin Huang; Chuntao Lei; Guiquan Sha; Hong Zheng; Xiaoqi Liu; Jiyun Yang; Yi Shi; Ying Lin; Bo Gong; Xianjun Zhu; Shi Ma; Lifeng Qiao; He Lin; Jing Cheng; Zhenglin Yang

doi:10.1371/journal.pone.0078274

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Research Article

A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration

Fang Lu ,

Contributed equally to this work with: Fang Lu, Lulin Huang, Chuntao Lei, Guiquan Sha

Affiliations Center for Human Molecular Biology & Genetics, The Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, Sichuan Translational Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China
⨯
Lulin Huang ,

Contributed equally to this work with: Fang Lu, Lulin Huang, Chuntao Lei, Guiquan Sha

Affiliations Center for Human Molecular Biology & Genetics, The Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, Sichuan Translational Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China
⨯
Chuntao Lei ,

Contributed equally to this work with: Fang Lu, Lulin Huang, Chuntao Lei, Guiquan Sha

Affiliation Department of Ophthalmology, Sichuan Academy of Medical Sciences Affiliated Hospital and Sichuan Provincial People's Hospital, Sichuan, China
⨯
Guiquan Sha ,

Contributed equally to this work with: Fang Lu, Lulin Huang, Chuntao Lei, Guiquan Sha

Affiliation Dechang County Hospital of Traditional Chinese Medicine, Liangshan Autonomous Prefecture, Sichuan, China
⨯
Hong Zheng,

Affiliations Center for Human Molecular Biology & Genetics, The Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, Sichuan Translational Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China
⨯
Xiaoqi Liu,

Affiliations Center for Human Molecular Biology & Genetics, The Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, Sichuan Translational Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China
⨯
Jiyun Yang,

Affiliations Center for Human Molecular Biology & Genetics, The Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, Sichuan Translational Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China
⨯
Yi Shi,

Affiliations Center for Human Molecular Biology & Genetics, The Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, Sichuan Translational Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China
⨯
Ying Lin,

Affiliations Center for Human Molecular Biology & Genetics, The Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, Sichuan Translational Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China
⨯
Bo Gong,

Affiliations Center for Human Molecular Biology & Genetics, The Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, Sichuan Translational Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China
⨯
Xianjun Zhu,

Affiliations Center for Human Molecular Biology & Genetics, The Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, Sichuan Translational Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China
⨯
Shi Ma,

Affiliations Center for Human Molecular Biology & Genetics, The Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, Sichuan Translational Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China
⨯
Lifeng Qiao,

Affiliation Department of Ophthalmology, Sichuan Academy of Medical Sciences Affiliated Hospital and Sichuan Provincial People's Hospital, Sichuan, China
⨯
He Lin,

Affiliations Center for Human Molecular Biology & Genetics, The Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, Sichuan Translational Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China
⨯
Jing Cheng,

Affiliations Center for Human Molecular Biology & Genetics, The Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, Sichuan Translational Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China
⨯
[ ... ],
Zhenglin Yang

* E-mail: zliny@yahoo.com

Affiliations Center for Human Molecular Biology & Genetics, The Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China, Sichuan Translational Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China
⨯
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A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration

Fang Lu,
Lulin Huang,
Chuntao Lei,
Guiquan Sha,
Hong Zheng,
Xiaoqi Liu,
Jiyun Yang,
Yi Shi,
Ying Lin,
Bo Gong

Published: November 11, 2013
https://doi.org/10.1371/journal.pone.0078274

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