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Article

Disease-associated variants of microsomal retinol dehydrogenase 12 (RDH12) are degraded at mutant-specific rates.

FEBS letters - 5 Feb 2010

Lee Seung-Ah, Belyaeva Olga V, Kedishvili Natalia Y

Abstract excerpt

Mutations in retinol dehydrogenase 12 (RDH12) cause severe retinal degeneration. However, some of the disease-associated RDH12 mutants retain significant catalytic activity, indicating the existence of additional pathophysiological mechanisms. This study demonstrates that the catalytically active...

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Identifiers

PMID: 20006610
DOI: 10.1016/j.febslet.2009.12.009
PMCID: PMC2812597

Genes

RDH12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20006610-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Disease-associated variants of microsomal retinol dehydrogenase 12 (RDH12) are degraded at mutant-specific rates.PMID 20006610Read ↗

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