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Article

Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.

Experimental eye research - 1 Aug 2000

Bharadwaj A K, Kasztejna J P, Huq S, Berson E L, Dryja T P

Abstract excerpt

Usher syndrome type I (USH1) is a recessively-inherited disorder consisting of retinitis pigmentosa, profound congenital deafness, and vestibular ataxia. It can be caused by mutations in at least six different loci (USH1A-1F). The gene encoding human myosin VIIA (MYO7A) is the USH1B locus. In this study, 66 unrelated patients with USH1 were evaluated for defects in MYO7A using single-strand conformation...

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Source

Identifiers

PMID: 10930322
DOI: 10.1006/exer.2000.0863

Genes

ERG

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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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