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

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

American journal of human genetics - 1 Oct 2000

Rivera A, White K, Stöhr H, Steiner K, Hemmrich N, Grimm T, Jurklies B, Lorenz B, Scholl H P, Apfelstedt-Sylla E, Weber B H

Abstract excerpt

Stargardt disease (STGD) is a common autosomal recessive maculopathy of early and young-adult onset and is caused by alterations in the gene encoding the photoreceptor-specific ATP-binding cassette (ABC) transporter (ABCA4). We have studied 144 patients with STGD and 220 unaffected individuals ascertained from the German population, to complete a comprehensive, population-specific survey of the sequence variation...

Read the complete abstract on PubMed

Topics

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

Share to ATP-Binding Cassette Transporters
Share to Chromatography, High Pressure Liquid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human

Share to Data Collection

Share to Founder Effect

Share to Germany

Share to Macular Degeneration

Share to RNA Splice Sites

Source

Open in PubMed Open full text

Identifiers

PMID: 10958763
DOI: 10.1086/303090
PMCID: PMC1287885

Genes

ABCA4

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

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.PMID 10958763Read ↗

Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.Semantic proximity Read ↗

Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families.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 ↗

Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele.Semantic proximity Read ↗

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.Semantic proximity Read ↗

An ABCA4 genomic deletion in patients with Stargardt disease.Semantic proximity Read ↗

Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa.Semantic proximity Read ↗

Analysis of the ABCA4 genomic locus in Stargardt disease.Semantic proximity Read ↗

Mutation of the Stargardt Disease Gene (ABCR) in Age-related Macular DegenerationSemantic proximity Read ↗

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.Semantic proximity Read ↗

ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.Semantic proximity Read ↗

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