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Article

Functional analysis of splicing mutations in MYO7A and USH2A genes.

Clinical genetics - 1 Mar 2011

Jaijo T, Aller E, Aparisi M J, García-García G, Hernan I, Gamundi M J, Nájera C, Carballo M, Millán J M

Abstract excerpt

Usher syndrome is defined by the association of sensorineural hearing loss, retinitis pigmentosa and variable vestibular dysfunction. Many disease-causative mutations have been identified in MYO7A and USH2A genes, which play a major role in Usher syndrome type I and type II, respectively. The pathogenic nature of mutations that lead to premature stop codons is not questioned; nevertheless, additional studies are...

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PMID: 20497194
DOI: 10.1111/j.1399-0004.2010.01454.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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Functional analysis of splicing mutations in MYO7A and USH2A genes.PMID 20497194Read ↗

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