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Article

Novel mutations in MYO7A and USH2A in Usher syndrome.

Ophthalmic genetics - 1 Mar 2005

Maubaret Cécilia, Griffoin Jean-Michel, Arnaud Bernard, Hamel Christian

Abstract excerpt

PURPOSE: Usher syndrome is an autosomal recessive disease associating retinitis pigmentosa and neurosensory deafness. Three clinical types (USH1, USH2, USH3) and 11 mutated genes or loci have been described. Mutations in MYO7A and USH2A are responsible for about 40% and 60% of Usher syndromes typ...

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Source

Identifiers

PMID: 15823922
DOI: 10.1080/13816810590918118

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15823922-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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