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Article

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

Molecular vision - 1 Jan 2008

Dai Hanjun, Zhang Xiaohui, Zhao Xin, Deng Ting, Dong Bing, Wang Jingzhao, Li Yang

Abstract excerpt

PURPOSE: Usher syndrome type II (USH2) is the most common form of Usher syndrome, an autosomal recessive disorder characterized by moderate to severe hearing loss, postpuberal onset of retinitis pigmentosa (RP), and normal vestibular function. Mutations in the USH2A gene have been shown to be responsible for most cases of USH2. To further elucidate the role of USH2A in USH2, mutation screening was undertaken in...

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Identifiers

PMID: 19023448
PMCID: PMC2584772

Genes

ERG

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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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Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.PMID 19023448Read ↗

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