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

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.

Human genetics - 1 May 2007

Wiszniewski Wojciech, Lewis Richard Alan, Lupski James R

Abstract excerpt

Achromatopsia (ACHM) or rod monochromacy is an autosomal recessive and genetically heterogeneous retinal disorder. It is characterized by a lack of color discrimination, poor visual acuity, photodysphoria, pendular infantile nystagmus, and abnormal photopic electroretinographic (ERG) recordings with preservation of rod-mediated function. Mutations in three known genes are causative; including genes for the alpha...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 14
Share to Color Vision Defects

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cyclic Nucleotide-Gated Cation Channels

Share to Founder Effect

Share to Ion Channels

Share to Phenotype

Share to Retinal Diseases

Share to Uniparental Disomy

Source

Identifiers

PMID: 17265047
DOI: 10.1007/s00439-006-0314-y

Genes

CNGB3
CNGA3
ERG
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

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.PMID 17265047Read ↗

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 ↗

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

Achromatopsia: Genetics and Gene Therapy.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 ↗

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.Semantic proximity Read ↗

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

Genetic phenotypic characteristics and inheritance patterns of patients with achromatopsia at a large academic institution and a review of the literature and gene therapies.Semantic proximity Read ↗

Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient.Semantic proximity Read ↗

<i>CNGB3</i>Achromatopsia with Progressive Loss of Residual Cone Function and Impaired Rod-Mediated FunctionSemantic proximity Read ↗

A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.Semantic proximity Read ↗

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

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