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Article

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

Journal of medical genetics - 1 Jul 2010

McGee Terri L, Seyedahmadi Babak Jian, Sweeney Meredith O, Dryja Thaddeus P, Berson Eliot L

Abstract excerpt

BACKGROUND: Usher syndrome type II (USH2) is an autosomal recessive disorder characterised by retinitis pigmentosa (RP) and mild to moderate sensorineural hearing loss. Mutations in the USH2A gene are the most common cause of USH2 and are also a cause of some forms of RP without hearing loss (ie, non-syndromic RP). The USH2A gene was initially identified as a transcript comprised of 21 exons but subsequently a...

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Identifiers

PMID: 20507924
DOI: 10.1136/jmg.2009.075143
PMCID: PMC3070405

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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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