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

A novel mutation and phenotypes in phosphodiesterase 6 deficiency.

American journal of ophthalmology - 1 Nov 2008

Tsang Stephen H, Tsui Irena, Chou Chai Lin, Zernant Jana, Haamer Eneli, Iranmanesh Reza, Tosi Joaquin, Allikmets Rando

Abstract excerpt

PURPOSE: To develop a systematic approach for the molecular diagnosis of retinitis pigmentosa (RP) and to report new genotype-phenotype correlations for phosphodiesterase 6 (PDE6)-based RP mutations. DESIGN: Clinical and molecular studies on a retrospective case series. METHODS: We screened 40 unrelated RP patients with an autosomal recessive RP microarray. Individuals with RP caused by PDE6 deficiency underwent...

Read the complete abstract on PubMed

Topics

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

Share to Genes, Recessive
Share to Cyclic Nucleotide Phosphodiesterases, Type 6

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroretinography

Share to Eye Proteins

Share to Homozygote

Share to Microarray Analysis

Share to Retinitis Pigmentosa

Share to Visual Acuity

Source

Open in PubMed Open full text

Identifiers

PMID: 18723146
DOI: 10.1016/j.ajo.2008.06.017
PMCID: PMC2593460

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

A novel mutation and phenotypes in phosphodiesterase 6 deficiency.PMID 18723146Read ↗

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

Novel Variants in Phosphodiesterase 6A and Phosphodiesterase 6B Genes and Its Phenotypes in Patients With Retinitis Pigmentosa in Chinese FamiliesSemantic proximity Read ↗

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

Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family.Semantic proximity Read ↗

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

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

Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.Semantic proximity Read ↗

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

A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy.Semantic proximity Read ↗

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

A homozygous PDE6B mutation in a family with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

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

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