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Ophthalmic Genetics Volume 36, 2015 - Issue 1
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Mutation Report

Clinical and Genetic Identification of a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa

Yezhen YangDepartment of Ophthalmology, The Second Xiangya Hospital, Xiangya School of Medicine, Central South University, Changsha, P.R. China,
,
Di TianState Key Lab of Medical Genetics, Central South University, Changsha, P.R. China,
,
Janet LeeDepartment of Ophthalmology, Shiley Eye Center, University of California, San Diego, La Jolla, CA, USA,
,
Jing ZengDepartment of Ophthalmology, The First Affiliated Hospital of Guangxi Medical University, Nanning, P.R. China, and
,
Huiming ZhangDepartment of Ophthalmology, The Second Xiangya Hospital, Xiangya School of Medicine, Central South University, Changsha, P.R. China,
,
Siying ChenDepartment of Ophthalmology, The Second Xiangya Hospital, Xiangya School of Medicine, Central South University, Changsha, P.R. China,
,
Hui GuoState Key Lab of Medical Genetics, Central South University, Changsha, P.R. China,
,
Zhiming XiongState Key Lab of Medical Genetics, Central South University, Changsha, P.R. China,
,
Kun XiaState Key Lab of Medical Genetics, Central South University, Changsha, P.R. China, ;The School of Biological Science and Technology, Central South University, Changsha, P.R. China
,
Zhengmao HuState Key Lab of Medical Genetics, Central South University, Changsha, P.R. China, ;The School of Biological Science and Technology, Central South University, Changsha, P.R. ChinaCorrespondence[email protected]
&
Jing LuoDepartment of Ophthalmology, The Second Xiangya Hospital, Xiangya School of Medicine, Central South University, Changsha, P.R. China, Correspondence[email protected]
 show all
Pages 64-69 | Received 02 Jan 2013, Accepted 21 May 2013, Published online: 08 Jul 2013

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Kristian Lisbjerg, Mette Bertelsen, Karen Grønskov & Line Kessel. (2023) Clinical characterization of patients with PRPF31-related retinitis pigmentosa and asymptomatic carriers: a cross-sectional study. Ophthalmic Genetics 44:5, pages 456-464.
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Danial Roshandel, Jennifer A. Thompson, Jason Charng, Dan Zhang, Enid Chelva, Sukanya Arunachalam, Mary S. Attia, Tina M. Lamey, Terri L. McLaren, John N. De Roach, David A. Mackey, Steve D. Wilton, Sue Fletcher, Samuel McLenachan & Fred K. Chen. (2021) Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy. Ophthalmic Genetics 42:1, pages 1-14.
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Articles from other publishers (6)

Danial Roshandel, Jennifer A. Thompson, Rachael C. Heath Jeffery, Dan Zhang, Tina M. Lamey, Terri L. McLaren, John N. De Roach, Samuel McLenachan, David A. Mackey & Fred K. Chen. (2021) Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11. Genes 12:6, pages 915.
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Anogeianakis George A, Loukovitis Eleftherios D, Stoimeni Anastasia A, Tranos Paris G & Koukoula Stavrenia Ch. (2020) Recent Developments on the major genes involved in retinitis pigmentosa. IP International Journal of Ocular Oncology and Oculoplasty 6:3, pages 157-166.
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Gabrielle Wheway, Andrew Douglas, Diana Baralle & Elsa Guillot. (2020) Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy. Experimental Eye Research 192, pages 107950.
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Kentaro Kurata, Katsuhiro Hosono & Yoshihiro Hotta. (2018) Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa. Japanese Journal of Ophthalmology 62:2, pages 186-193.
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Jianping Xiao, Xueqin Guo, Yong Wang, Mingkun Shao, Xiaoming Wei, Lique Du, Long Li, Yan Sun & Yun Yang. (2018) Identification of a Disease-Causing Mutation in a Chinese Patient with Retinitis Pigmentosa by Targeted Next-Generation Sequencing. European Journal of Ophthalmology 27:6, pages 791-796.
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Anna M. Rose, Amna Z. Shah, Giulia Venturini, Carlo Rivolta, Geoffrey E. Rose & Shomi S. Bhattacharya. (2014) Dominant PRPF31 Mutations Are Hypostatic to a Recessive CNOT3 Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of “Linked Trans -Acting Epistasis” . Annals of Human Genetics 78:1, pages 62-71.
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