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Article

Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31.

The British journal of ophthalmology - 1 Oct 2007

Ghazawy S, Springell K, Gauba V, McKibbin M A, Inglehearn C F

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17895420
DOI: 10.1136/bjo.2006.105163
PMCID: PMC2000988

Genes

PRPF31

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31.PMID 17895420Read ↗

Gene of the month: PRPF31.Semantic proximity Read ↗

Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.Semantic proximity Read ↗

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).Semantic proximity Read ↗

Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.Semantic proximity Read ↗

Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

A c.544_618del75bp mutation in the splicing factor gene PRPF31 is involved in non-syndromic retinitis pigmentosa by reducing the level of mRNA expression.Semantic proximity Read ↗

Identification and functional characterization of a novel splicing mutation in RP gene PRPF31.Semantic proximity Read ↗

Targeted Next Generation Sequencing Revealed Novel PRPF31 Mutations in Autosomal Dominant Retinitis Pigmentosa.Semantic proximity Read ↗

Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients.Semantic proximity Read ↗

Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

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