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Article

Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations.

Investigative ophthalmology & visual science - 1 Mar 2009

Valverde Diana, Pereiro Ines, Vallespín Elena, Ayuso Carmen, Borrego Salud, Baiget Montserrat

Abstract excerpt

PURPOSE: Several mutations have been described in the RDH12 gene that disturb the activity of the encoded protein, suggesting that RDH12 loss of function disrupts the synthetic pathway of the visual chromophore 11-cis-retinal, therefore resulting in early and progressive retinal degeneration (RD)...

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Source

Identifiers

PMID: 19011012
DOI: 10.1167/iovs.08-2083

Genes

RDH12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19011012-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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