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

New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.

Molecular vision - 1 Jan 2015

de Sousa Dias Miguel, Hernan Imma, Delás Barbara, Pascual Beatriz, Borràs Emma, Gamundi Maria José, Mañé Begoña, Fernández-San José Patricia, Ayuso Carmen, Carballo Miguel

Abstract excerpt

PURPOSE: This study aimed to test a newly devised cost-effective multiplex PCR assay for the molecular diagnosis of autosomal dominant retinitis pigmentosa (adRP), as well as the use of whole-exome sequencing (WES) to detect disease-causing mutations in adRP. METHODS: Genomic DNA was extracted from peripheral blood lymphocytes of index patients with adRP and their affected and unaffected family members. We used a...

Read the complete abstract on PubMed

Topics

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

Share to 3' Untranslated Regions
Share to Collagen Type VI

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Breaks

Share to Genes, Dominant

Share to Multiplex Polymerase Chain Reaction

Share to Retinitis Pigmentosa

Share to Rhodopsin

Source

Open in PubMed Open full text

Identifiers

PMID: 26321861
PMCID: PMC4539015

Genes

RHO
PRPH2
CRX
IMPDH1
KLHL7
NRL
PRPF3
PRPF31
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

New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.PMID 26321861Read ↗

Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.Semantic proximity Read ↗

Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.Semantic proximity Read ↗

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

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosaSemantic proximity Read ↗

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.Semantic proximity Read ↗

Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.Semantic proximity Read ↗

A molecular case report of autosomal dominant retinitis pigmentosa: RP1/RHO sequence variants in a Turkish family.Semantic proximity Read ↗

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.Semantic proximity Read ↗

Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.Semantic proximity Read ↗

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

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.Semantic proximity Read ↗

Genetic and bioinformatic analysis of RHO and PRPH2 variants in north Indian retinitis pigmentosa patients.Semantic proximity Read ↗

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