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Article

Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population.

Eye (London, England) - 1 Oct 2018

Huang Lulin, Mao Yao, Yang Jiyun, Li Yuanfeng, Li Yang, Yang Zhenglin

Abstract excerpt

OBJECTIVES: USH2A encodes for usherin, a basement membrane protein in the inner ear and retina. USH2A can cause retinitis pigmentosa (RP) with or without hearing loss. The aim of this study was to detect USH2A mutations in a Chinese cohort of 75 small RP families and 10 Usher syndrome families. METHODS: We performed a direct Sanger sequencing analysis of the USH2A gene to identify mutations for this cohort....

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Identifiers

PMID: 29899460
DOI: 10.1038/s41433-018-0130-3
PMCID: PMC6189035

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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