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

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.

American journal of human genetics - 1 Oct 2000

Maugeri A, Klevering B J, Rohrschneider K, Blankenagel A, Brunner H G, Deutman A F, Hoyng C B, Cremers F P

Abstract excerpt

The photoreceptor cell-specific ATP-binding cassette transporter gene (ABCA4; previously denoted "ABCR") is mutated, in most patients, with autosomal recessive (AR) Stargardt disease (STGD1) or fundus flavimaculatus (FFM). In addition, a few cases with AR retinitis pigmentosa (RP) and AR cone-rod dystrophy (CRD) have been found to have ABCA4 mutations. To evaluate the importance of the ABCA4 gene as a cause of AR...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to ATP-Binding Cassette Transporters

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Base Sequence

Share to Genes, Recessive

Share to Germany

Share to Netherlands

Share to Polymorphism, Single-Stranded Conformational

Share to Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 10958761
DOI: 10.1086/303079
PMCID: PMC1287897

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

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.PMID 10958761Read ↗

The expanding roles of ABCA4 and CRB1 in inherited blindness.Semantic proximity Read ↗

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.Semantic proximity Read ↗

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.Semantic proximity Read ↗

Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family.Semantic proximity Read ↗

Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.Semantic proximity Read ↗

[From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa].Semantic proximity Read ↗

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.Semantic proximity Read ↗

Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.Semantic proximity Read ↗

[Inherited retinal diseases in patients with ABCA4 gene mutations].Semantic proximity Read ↗

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

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.Semantic proximity Read ↗

Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa.Semantic proximity Read ↗

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