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

CNGA3 mutations in two United Arab Emirates families with achromatopsia.

Molecular vision - 10 Jul 2008

Ahuja Yachna, Kohl Susanne, Traboulsi Elias I

Abstract excerpt

PURPOSE: ACHROMATOPSIA RESULTS FROM MUTATIONS IN ONE OF THREE GENES: cyclic nucleotide-gated channel, alpha-3 (CNGA3); cyclic nucleotide-gated channel, beta-3 (CNGB3); and guanine nucleotide-binding protein, alpha-transducing activity polypeptide 2 (GNAT2). We report the responsible mutations in two United Arab Emirates families who have this autosomal recessive disease. METHODS: Clinical examinations were...

Read the complete abstract on PubMed

Topics

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

Share to Arabs
Share to Color Vision Defects
Share to Cyclic Nucleotide-Gated Cation Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Family

Share to Genes, Recessive

Share to United Arab Emirates

Source

Open in PubMed Open full text

Identifiers

PMID: 18636117
PMCID: PMC2464613

Genes

CNGA3
CNGB3
GNAT2

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

CNGA3 mutations in two United Arab Emirates families with achromatopsia.PMID 18636117Read ↗

Five novel CNGB3 gene mutations in Polish patients with achromatopsia.Semantic proximity Read ↗

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.Semantic proximity Read ↗

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.Semantic proximity Read ↗

Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.Semantic proximity Read ↗

Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.Semantic proximity Read ↗

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.Semantic proximity Read ↗

[Genetic analysis of a Chinese pedigree affected with Achromatopsia due to variants of CNGA3 gene and a literature review].Semantic proximity Read ↗

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.Semantic proximity Read ↗

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.Semantic proximity Read ↗

Molecular genetic cause of achromatopsia in two patients of Czech origin.Semantic proximity Read ↗

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.Semantic proximity Read ↗

Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.Semantic proximity Read ↗

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