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Article

Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?

Ophthalmic genetics - 1 Jun 2009

Schob Claudia, Orth Ulrike, Gal Andreas, Kindler Stefan, Chakarova Christina F, Bhattacharya Shomi S, Rüther Klaus

Abstract excerpt

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa (adRP). Examination of 160 adRP patients from continental Europe revealed nine exonic single nucleotide variants, eight of which reside in the coding region; three synonymous single nucleotide polymorphisms (SNPs; c.2319T > C, c.2991T > C and c.1560A > G), three nonsynonymous SNPs (c.58C > T/p.P20S, c.74C >G/p.S25W and c.1730C > A/p.S577Y) and two...

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Identifiers

PMID: 19373681
DOI: 10.1080/13816810802695543

Genes

TOPORS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?PMID 19373681Read ↗

Mutations of TOPORS identified in families with retinitis pigmentosa.Semantic proximity Read ↗

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

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 ↗

A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa.Semantic proximity Read ↗

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

Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP).Semantic proximity Read ↗

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.Semantic proximity Read ↗

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

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