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Article

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

Investigative ophthalmology & visual science - 1 Dec 2000

Thompson D A, Gyürüs P, Fleischer L L, Bingham E L, McHenry C L, Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards J E, Jacobson S G, Sieving P A, Gal A

Abstract excerpt

PURPOSE: To characterize the spectrum of RPE65 mutations present in 453 patients with retinal dystrophy with an interest in understanding the range of functional deficits attributable to sequence variants in this gene. METHODS: The 14 exons of RPE65 were amplified by polymerase chain reaction (PC...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11095629

Genes

RPE65

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11095629-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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