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Article

Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa.

Scientific reports - 18 Mar 2015

Ma Xiangyu, Guan Liping, Wu Wei, Zhang Yao, Zheng Wei, Gao Yu-Tang, Long Jirong, Wu Na, Wu Long, Xiang Ying, Xu Bin, Shen Miaozhong, Chen Yanhua, Wang Yuewen, Yin Ye, Li Yingrui, Xu Haiwei, Xu Xun, Li Yafei

Abstract excerpt

Retinitis pigmentosa (RP), a heterogeneous group of inherited ocular diseases, is a genetic condition that causes retinal degeneration and eventual vision loss. Though some genes have been identified to be associated with RP, still a large part of the clinical cases could not be explained. Here we reported a four-generation Chinese family with RP, during which 6 from 9 members of the second generation affected...

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Identifiers

PMID: 25783483
DOI: 10.1038/srep09236
PMCID: PMC4363838

Genes

RPE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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