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Article

Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.

Molecular vision - 8 Dec 2009

Rio Frio Thomas, Panek Sylwia, Iseli Christian, Di Gioia Silvio Alessandro, Kumar Arun, Gal Andreas, Rivolta Carlo

Abstract excerpt

PURPOSE: Mutations in IDH3B, an enzyme participating in the Krebs cycle, have recently been found to cause autosomal recessive retinitis pigmentosa (arRP). The MDH1 gene maps within the RP28 arRP linkage interval and encodes cytoplasmic malate dehydrogenase, an enzyme functionally related to IDH3...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Source

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Identifiers

PMID: 20011630
PMCID: PMC2790479

Genes

MDH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20011630-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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