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

Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease.

Investigative ophthalmology & visual science - 1 Sept 2007

Beit-Ya'acov Anat, Mizrahi-Meissonnier Liliana, Obolensky Alexey, Landau Carmit, Blumenfeld Anat, Rosenmann Ada, Banin Eyal, Sharon Dror

Abstract excerpt

PURPOSE: To clinically characterize and genetically analyze members of six families who reside in the same village and manifest a rare form of retinal degeneration. METHODS: Ophthalmic evaluation included a full clinical examination, perimetry, color vision testing, and electroretinography. Genomic DNA was screened for ABCA4 mutations with the use of microarray analysis and direct sequencing. RNA analysis was...

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to ATP-Binding Cassette Transporters

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fluorescein Angiography

Share to Founder Effect

Share to Retina

Share to Retinal Degeneration

Share to Visual Acuity

Share to Visual Fields

Source

Identifiers

PMID: 17724221
DOI: 10.1167/iovs.07-0244

Genes

ABCA4

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

Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease.PMID 17724221Read ↗

Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts.Semantic proximity Read ↗

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.Semantic proximity Read ↗

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.Semantic proximity Read ↗

Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect.Semantic proximity Read ↗

N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population.Semantic proximity Read ↗

The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.Semantic proximity Read ↗

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.Semantic proximity Read ↗

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.Semantic proximity Read ↗

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.Semantic proximity Read ↗

ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing.Semantic proximity Read ↗

Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.Semantic proximity Read ↗

Unusual clinical phenotype of Stargardt disease.Semantic proximity Read ↗

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