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

Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa.

Scientific reports - 22 Jan 2016

Yu Xinping, Shi Wei, Cheng Lulu, Wang Yanfang, Chen Ding, Hu Xuting, Xu Jinling, Xu Limin, Wu Yaming, Qu Jia, Gu Feng

Abstract excerpt

Retinitis pigmentosa (RP) is a genetically highly heterogeneous retinal disease and one of the leading causes of blindness in the world. Next-generation sequencing technology has enormous potential for determining the genetic etiology of RP. We sought to identify the underlying genetic defect in a 35-year-old male from an autosomal-dominant RP family with 14 affected individuals. By capturing next-generation...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to DNA Mutational Analysis

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

Share to Family

Share to Genes, Dominant

Share to High-Throughput Nucleotide Sequencing

Share to Pedigree

Share to Retinitis Pigmentosa

Share to Rhodopsin

Source

Open in PubMed Open full text

Identifiers

PMID: 26794436
DOI: 10.1038/srep19759
PMCID: PMC4726306

Genes

RHO

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

Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa.PMID 26794436Read ↗

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.Semantic proximity Read ↗

Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa.Semantic proximity Read ↗

Gene mutations in retinitis pigmentosa and their clinical implications.Semantic proximity Read ↗

Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa.Semantic proximity Read ↗

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

Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa.Semantic proximity Read ↗

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.Semantic proximity Read ↗

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.Semantic proximity Read ↗

Clinical features of autosomal dominant retinitis pigmentosa associated with a Rhodopsin mutation.Semantic proximity Read ↗

Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998999ins4.Semantic proximity Read ↗

Novel rhodopsin mutation in a Chinese family with autosomal dominant 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 ↗

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