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Article

Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease.

The British journal of ophthalmology - 1 Jan 2021

Gao Feng-Juan, Wang Dan-Dan, Chen Fang, Sun Hao-Xiang, Hu Fang-Yuan, Xu Ping, Li Jiankang, Liu Wei, Qi Yu-He, Li Wei, Wang Ming, Zhang Shenghai, Xu Ge-Zhi, Chang Qing, Wu Ji-Hong

Abstract excerpt

AIMS: To investigate the frequency of USH2A mutation and the clinical and genetic differences between Usher syndrome type II (USH2) and retinitis pigmentosa (RP) in a large cohort of Chinese patients. METHODS: A total of 1381 patients with inherited retinal disease (IRD) were recruited. The phenotypic and genotypic information of patients with USH2A mutations was evaluated. RESULTS: The prevalence of patients...

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Identifiers

PMID: 32188678
DOI: 10.1136/bjophthalmol-2020-315878
PMCID: PMC7788223

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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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