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

Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.

American journal of human genetics - 13 Aug 2010

Dvir Liron, Srour Gassoub, Abu-Ras Rasmi, Miller Benjamin, Shalev Stavit A, Ben-Yosef Tamar

Abstract excerpt

Retinitis pigmentosa (RP) is the most common form of hereditary retinal degeneration, with a worldwide prevalence of 1 in 4000. Over 30 genes and loci have been implicated in nonsyndromic autosomal-recessive (ar) RP. Genome-wide homozygosity mapping was conducted in two sibships from an extended consanguineous Muslim Arab Israeli family segregating ar severe early-onset RP. A shared homozygous region on...

Read the complete abstract on PubMed

Topics

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

Share to Cyclic Nucleotide Phosphodiesterases, Type 6
Share to Fundus Oculi

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

Share to Genes, Recessive

Share to Israel

Share to Protein Subunits

Share to Retinal Rod Photoreceptor Cells

Share to Retinitis Pigmentosa

Share to RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 20655036
DOI: 10.1016/j.ajhg.2010.06.016
PMCID: PMC2917712

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

Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.PMID 20655036Read ↗

A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing.Semantic proximity Read ↗

Analysis of PDE6G mutations in a patient with retinitis pigmentosa.Semantic proximity Read ↗

Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene.Semantic proximity Read ↗

Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families.Semantic proximity Read ↗

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.Semantic proximity Read ↗

Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.Semantic proximity Read ↗

Update on the molecular genetics of retinitis pigmentosa.Semantic proximity Read ↗

Retinitis Pigmentosa (Non-syndromic).Semantic proximity Read ↗

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.Semantic proximity Read ↗

Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani familySemantic proximity Read ↗

Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa.Semantic proximity Read ↗

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