A Novel Nonsense Mutation of the GPR143 Gene Identified in a Chinese Pedigree with Ocular Albinism

Naihong Yan; Xuan Liao; Su-ping Cai; Changjun Lan; Yun Wang; Xiaomin Zhou; Yan Yin; Wenhan Yu; Xuyang Liu

doi:10.1371/journal.pone.0043177

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Open Access

Peer-reviewed

Research Article

A Novel Nonsense Mutation of the GPR143 Gene Identified in a Chinese Pedigree with Ocular Albinism

Naihong Yan ,

Contributed equally to this work with: Naihong Yan, Xuan Liao, Su-ping Cai

Affiliation State Key Laboratory of Biotherapy, Ophthalmic Laboratories, Department of Ophthalmology, Translational Neuroscience Center, West China Hospital, Sichuan University, Chengdu, People’s Republic of China
⨯
Xuan Liao ,

Contributed equally to this work with: Naihong Yan, Xuan Liao, Su-ping Cai

Affiliations State Key Laboratory of Biotherapy, Ophthalmic Laboratories, Department of Ophthalmology, Translational Neuroscience Center, West China Hospital, Sichuan University, Chengdu, People’s Republic of China, Department of Ophthalmology, North Sichuan Medical College, Nanchong, People’s Republic of China
⨯
Su-ping Cai ,

Contributed equally to this work with: Naihong Yan, Xuan Liao, Su-ping Cai

Affiliation Shenzhen Eye Hospital, Jinan University, Shenzhen, People’s Republic of China
⨯
Changjun Lan,

Affiliation Department of Ophthalmology, North Sichuan Medical College, Nanchong, People’s Republic of China
⨯
Yun Wang,

Affiliation State Key Laboratory of Biotherapy, Ophthalmic Laboratories, Department of Ophthalmology, Translational Neuroscience Center, West China Hospital, Sichuan University, Chengdu, People’s Republic of China
⨯
Xiaomin Zhou,

Affiliation State Key Laboratory of Biotherapy, Ophthalmic Laboratories, Department of Ophthalmology, Translational Neuroscience Center, West China Hospital, Sichuan University, Chengdu, People’s Republic of China
⨯
Yan Yin,

Affiliation State Key Laboratory of Biotherapy, Ophthalmic Laboratories, Department of Ophthalmology, Translational Neuroscience Center, West China Hospital, Sichuan University, Chengdu, People’s Republic of China
⨯
Wenhan Yu,

Affiliation State Key Laboratory of Biotherapy, Ophthalmic Laboratories, Department of Ophthalmology, Translational Neuroscience Center, West China Hospital, Sichuan University, Chengdu, People’s Republic of China
⨯
Xuyang Liu

* E-mail: xliu1213@yahoo.com.cn

Affiliation Shenzhen Eye Hospital, Jinan University, Shenzhen, People’s Republic of China
⨯

A Novel Nonsense Mutation of the GPR143 Gene Identified in a Chinese Pedigree with Ocular Albinism

Naihong Yan,
Xuan Liao,
Su-ping Cai,
Changjun Lan,
Yun Wang,
Xiaomin Zhou,
Yan Yin,
Wenhan Yu,
Xuyang Liu

Published: August 20, 2012
https://doi.org/10.1371/journal.pone.0043177

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Nonsense mutation
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Deletion mutation
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Membrane proteins
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X-linked traits
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Ophthalmology
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Visual acuity
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