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

Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.

Molecular vision - 2 Mar 2005

Zeitz Christina, Minotti Roberta, Feil Silke, Mátyás Gábor, Cremers Frans P M, Hoyng Carel B, Berger Wolfgang

Abstract excerpt

PURPOSE: To describe the clinical features and genetic analysis of eight X-linked congenital stationary night blindness (XLCSNB) Dutch patients. METHODS: Electroretinogram (ERG) measurements were assessed in Dutch patients. Molecular genetic testing by denaturing high performance liquid chromatography (DHPLC), single stranded conformation polymorphism (SSCP) analysis, and direct sequencing of the CACNA1F and NYX...

Read the complete abstract on PubMed

Topics

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

Share to Calcium Channels, L-Type
Share to Electrooculography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroretinography

Share to Genetic Diseases, X-Linked

Share to Netherlands

Share to Night Blindness

Share to Photic Stimulation

Share to Proteoglycans

Source

Identifiers

PMID: 15761389

Genes

NYX
ERG

Variants

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

Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.PMID 15761389Read ↗

Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness.Semantic proximity Read ↗

Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness.Semantic proximity Read ↗

Mutations in the CACNA1F and NYX genes in British CSNBX families.Semantic proximity Read ↗

CSNB1 in Chinese families associated with novel mutations in NYX.Semantic proximity Read ↗

Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness.Semantic proximity Read ↗

A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness.Semantic proximity Read ↗

A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.Semantic proximity Read ↗

A novel NYX gene mutation identified in a Chinese Northeast Han family with high myopia and night blindness.Semantic proximity Read ↗

Incomplete congenital stationary night blindness associated with a novel variant in the CACNA1F gene.Semantic proximity Read ↗

CACNA1F-related synaptic dysfunction: challenges diagnosing congenital stationary night blindness presenting without night blindness.Semantic proximity Read ↗

A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.Semantic proximity Read ↗

A novel missense mutation in the NYX gene associated with high myopia.Semantic proximity Read ↗

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