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Article

Mutational spectrum in Usher syndrome type II.

Clinical genetics - 1 Apr 2004

Ouyang X M, Yan D, Hejtmancik J F, Jacobson S G, Li A R, Du L L, Angeli S, Kaiser M, Balkany T, Liu X Z

Abstract excerpt

Usher syndrome type II is an autosomal recessive disorder characterized by moderate to severe hearing impairment and progressive visual loss due to retinitis pigmentosa (RP). We carried out a mutation screening of the USH2A gene in 88 probands with Usher syndrome type II to determine the frequency of USH2A mutations as a cause for USH2. Six mutations, including 2299delG, 921-922insCAGC, R334W, N346H, R626X, and...

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Identifiers

PMID: 15025721
DOI: 10.1046/j.1399-0004.2004.00216.x

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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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