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 dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).

Molecular vision - 20 Feb 2005

Jiang Li, Katz Bradley J, Yang Zhenglin, Zhao Yu, Faulkner Nathan, Hu Jianbin, Baird Jennifer, Baehr Wolfgang, Creel Donnell J, Zhang Kang

Abstract excerpt

PURPOSE: To describe the clinical features and genetic analysis of a family with an autosomal dominant cone dystrophy (adCD). METHODS: Selected members of a family with an autosomal dominant cone dystrophy underwent ophthalmic evaluation. Blood samples were obtained, genomic DNA was isolated, and genomic fragments were amplified by PCR. Linkage to locus D6S1017 was established. DHPLC mutational analysis and...

Topics

Join the communities discussing this publication.

Blindness
Calcium-Binding Proteins
Color Vision Defects
Electroretinography
Fluorescein Angiography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Guanylate Cyclase

Retinal Cone Photoreceptor Cells

Retinal Degeneration

Source

Identifiers

PMID: 15735604

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).PMID 15735604Read ↗

Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy.Semantic proximity Read ↗

Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.Semantic proximity Read ↗

Functional characterization of a novel GUCA1A missense mutation (D144G) in autosomal dominant cone dystrophy: A novel pathogenic GUCA1A variant in COD.Semantic proximity Read ↗

Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.Semantic proximity Read ↗

Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.Semantic proximity Read ↗

GCAP1 mutations associated with autosomal dominant cone dystrophy.Semantic proximity Read ↗

A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).Semantic proximity Read ↗

Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy.Semantic proximity Read ↗

Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D.Semantic proximity Read ↗

Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.Semantic proximity Read ↗

A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy.Semantic proximity Read ↗

Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy.Semantic proximity Read ↗

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