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Article

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

American journal of human genetics - 1 Jun 2000

Rivolta C, Sweklo E A, Berson E L, Dryja T P

Abstract excerpt

Microdeletions Glu767(1-bp del), Thr967(1-bp del), and Leu1446(2-bp del) in the human USH2A gene have been reported to cause Usher syndrome type II, a disorder characterized by retinitis pigmentosa (RP) and mild-to-severe hearing loss. Each of these three frameshift mutations is predicted to lead to an unstable mRNA transcript that, if translated, would result in a truncated protein lacking the carboxy terminus....

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Identifiers

PMID: 10775529
DOI: 10.1086/302926
PMCID: PMC1378039

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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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