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Article

A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation.

Investigative ophthalmology & visual science - 1 Dec 2008

Lorenz Birgit, Poliakov Eugenia, Schambeck Maria, Friedburg Christoph, Preising Markus N, Redmond T Michael

Abstract excerpt

PURPOSE: Later onset and progression of retinal dystrophy occur with some RPE65 missense mutations. The functional consequences of the novel P25L RPE65 mutation was correlated with its early-childhood phenotype and compared with other pathogenic missense mutations. METHODS: In addition to typical...

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Source

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Identifiers

PMID: 18599565
DOI: 10.1167/iovs.07-1671
PMCID: PMC5015590

Genes

RPE65
ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18599565-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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