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Article

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

Human mutation - 1 Mar 2008

Dreyer Bo, Brox Vigdis, Tranebjaerg Lisbeth, Rosenberg Thomas, Sadeghi Andrè M, Möller Claes, Nilssen Oivind

Abstract excerpt

Usher syndrome type II (USH2) is an autosomal recessive disorder, characterised by moderate to severe high-frequency hearing impairment, normal balance function and progressive visual impairment due to retinitis pigmentosa. Usher syndrome type IIa, the most common subtype, is defined by mutations in the USH2A gene encoding a short and a recently discovered long usherin isoform comprising 21 and 73 exons,...

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Identifiers

PMID: 18273898
DOI: 10.1002/humu.9524

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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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Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.PMID 18273898Read ↗

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