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

Phenotypic expression of a PRPF8 gene mutation in a Large African American family.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Aug 2008

Walia Saloni, Fishman Gerald A, Zernant-Rajang Jana, Raime Kairi, Allikmets Rando

Abstract excerpt

OBJECTIVES: To describe the phenotype and determine the genetic cause of autosomal dominant retinitis pigmentosa (adRP) in a large African American family. METHODS: Fourteen members from 4 generations were evaluated clinically. Visual field measurements were made for most, and electroretinography, Tübinger perimetry, and optical coherence tomographic testing were done for individual family members. Genetic...

Read the complete abstract on PubMed

Topics

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

Share to Vision Disorders
Share to Visual Acuity
Share to Black or African American

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

Share to Electroretinography

Share to Retinitis Pigmentosa

Share to Tomography, Optical Coherence

Share to Visual Field Tests

Share to Visual Fields

Source

Identifiers

PMID: 18695108
DOI: 10.1001/archopht.126.8.1127

Genes

PRPF8

Variants

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic expression of a PRPF8 gene mutation in a Large African American family.PMID 18695108Read ↗

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

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

Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.Semantic proximity Read ↗

Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.Semantic proximity Read ↗

Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene.Semantic proximity Read ↗

Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy.Semantic proximity Read ↗

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

Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.Semantic proximity Read ↗

Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions.Semantic proximity Read ↗

Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu-mediated copy number variations at the PRPF31 locus.Semantic proximity Read ↗

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

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