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

Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.

Investigative ophthalmology & visual science - 1 Dec 2004

Rosenberg Thomas, Baumann Britta, Kohl Susanne, Zrenner Eberhart, Jorgensen Arne Lund, Wissinger Bernd

Abstract excerpt

PURPOSE: The present study was designed to elucidate the molecular genetic basis of a congenital stationary cone dysfunction characterized by congenital nystagmus, moderate visual impairment, and markedly disparate color vision deficiencies between two affected cousins. METHODS: Ophthalmic examinations with emphasis on color vision and electrophysiology. Molecular genetic analysis of the X-linked cone opsin...

Read the complete abstract on PubMed

Topics

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

Share to Alanine
Share to Color Perception

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Color Vision Defects

Share to DNA, Recombinant

Share to Electroretinography

Share to Glycine

Share to Molecular Biology

Share to Tyrosine

Source

Identifiers

PMID: 15557429
DOI: 10.1167/iovs.04-0317

Genes

GNAT2
CNGA3
CNGB3

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

Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.PMID 15557429Read ↗

Clinical and genetic features of Hungarian achromatopsia patients.Semantic proximity Read ↗

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

Achromatopsia: Genetics and Gene Therapy.Semantic proximity Read ↗

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.Semantic proximity Read ↗

Molecular basis of an inherited form of incomplete achromatopsia.Semantic proximity Read ↗

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.Semantic proximity Read ↗

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

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

Gene Therapy for Achromatopsia.Semantic proximity Read ↗

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

Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing.Semantic proximity Read ↗

Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.Semantic proximity Read ↗

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