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Article

Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

Molecular vision - 19 May 2008

Bowne Sara J, Sullivan Lori S, Gire Anisa I, Birch David G, Hughbanks-Wheaton Dianna, Heckenlively John R, Daiger Stephen P

Abstract excerpt

PURPOSE: The purpose of this project was to determine if mutations, including large insertions or deletions, in the recently identified RP31 gene topoisomerase I-binding arginine-serine rich (RS) protein (TOPORS), cause an appreciable fraction of autosomal dominant retinitis pigmentosa (adRP). ME...

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Source

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Identifiers

PMID: 18509552
PMCID: PMC2391085

Genes

TOPORS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18509552-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.PMID 18509552Read ↗

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.Semantic proximity Read ↗

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Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867.Semantic proximity Read ↗

Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene.Semantic proximity Read ↗

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.Semantic proximity Read ↗

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