Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

Human molecular genetics - 1 Jan 2002

Chakarova Christina F, Hims Matthew M, Bolz Hanno, Abu-Safieh Leen, Patel Reshma J, Papaioannou Myrto G, Inglehearn Chris F, Keen T Jeffrey, Willis Catherine, Moore Anthony T, Rosenberg Thomas, Webster Andrew R, Bird Alan C, Gal Andreas, Hunt David, Vithana Eranga N, Bhattacharya Shomi S

Abstract excerpt

Retinitis pigmentosa (RP), the commonest form of inherited retinal dystrophies is a clinically and genetically heterogeneous disorder. It is characterized by progressive degeneration of the peripheral retina leading to night blindness and loss of peripheral visual field. RP is inherited either in an autosomal dominant, autosomal recessive or X-linked mode. A locus (RP18) for autosomal dominant RP was previously...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 1
Share to Genes, Dominant

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Homozygote

Share to Retina

Share to Retinitis Pigmentosa

Share to Ribonucleoprotein, U4-U6 Small Nuclear

Share to RNA Splicing

Share to X Chromosome

Source

Identifiers

PMID: 11773002
DOI: 10.1093/hmg/11.1.87

Genes

PRPF31

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.PMID 11773002Read ↗

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

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).Semantic proximity Read ↗

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

Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.Semantic proximity Read ↗

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.Semantic proximity Read ↗

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

High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.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 ↗

Mutations of RPGR in X-linked retinitis pigmentosa (RP3).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 ↗

⌁Select a neighboring publication to make it the new centre.