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Article

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.

Investigative ophthalmology & visual science - 14 Jun 2013

Fu Qing, Wang Feng, Wang Hui, Xu Fei, Zaneveld Jacques E, Ren Huanan, Keser Vafa, Lopez Irma, Tuan Han-Fang, Salvo Jason S, Wang Xia, Zhao Li, Wang Keqing, Li Yumei, Koenekoop Robert K, Chen Rui, Sui Ruifang

Abstract excerpt

PURPOSE: Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease; therefore, an accurate molecular diagnosis is essential for appropriate disease treatment and family planning. The prevalence of RP in China had been reported at 1 in 3800, resulting in an estimated total of 340,000 Chinese RP patients. However, genetic studies of Chinese RP patients have been very limited. To date, no comprehensive...

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Identifiers

PMID: 23661369
DOI: 10.1167/iovs.13-11672
PMCID: PMC3684217

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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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