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Article

Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.

Vision research - 1 Jul 2007

Sun Wenyu, Gerth Christina, Maeda Akiko, Lodowski David T, Van Der Kraak Lauren, Saperstein David A, Héon Elise, Palczewski Krzysztof

Abstract excerpt

The purpose of this study was to determine the role of the retinol dehydrogenase 12 (RDH12) gene in patients affected with Leber congenital amaurosis (LCA), autosomal recessive retinitis pigmentosa (arRP) and autosomal dominant/recessive cone-rod dystrophies (CORD). Changes in the promoter region, coding regions and exon/intron junctions of the RDH12 gene were evaluated using direct DNA sequencing of patients...

Topics

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Alcohol Oxidoreductases
Blindness
Eye Diseases, Hereditary
Models, Molecular
Optic Atrophy, Hereditary, Leber

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Retinal Degeneration

Retinitis Pigmentosa

Sequence Homology

Source

Open in PubMed Open full text

Identifiers

PMID: 17512964
DOI: 10.1016/j.visres.2007.04.005
PMCID: PMC2441904

Genes

RDH12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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