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Article

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

Experimental eye research - 1 May 2001

Leroy B P, Aragon-Martin J A, Weston M D, Bessant D A, Willis C, Webster A R, Bird A C, Kimberling W J, Payne A M, Bhattacharya S S

Abstract excerpt

Usher syndrome (USH) is a combination of a progressive pigmentary retinopathy, indistinguishable from retinitis pigmentosa, and some degree of sensorineural hearing loss. USH can be subdivided in Usher type I (USHI), type II (USHII) and type III (USHIII), all of which are inherited as autosomal recessive traits. The three subtypes are genetically heterogeneous, with six loci so far identified for USHI, three for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11311042
DOI: 10.1006/exer.2000.0978

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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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