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Article

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

Journal of human genetics - 1 Dec 2009

Yan Denise, Ouyang Xiaomei, Patterson D Michael, Du Li Lin, Jacobson Samuel G, Liu Xue-Zhong

Abstract excerpt

Usher syndrome type II (USH2) is an autosomal recessive disorder characterized by moderate to severe hearing impairment and progressive visual loss due to retinitis pigmentosa (RP). To identify novel mutations and determine the frequency of USH2A mutations as a cause of USH2, we have carried out mutation screening of all 72 coding exons and exon-intron splice sites of the USH2A gene. A total of 20 USH2 American...

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Identifiers

PMID: 19881469
DOI: 10.1038/jhg.2009.107
PMCID: PMC4511341

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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