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

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

European journal of human genetics : EJHG - 1 Jul 2008

Kitiratschky Veronique B D, Grau Tanja, Bernd Antje, Zrenner Eberhart, Jägle Herbert, Renner Agnes B, Kellner Ulrich, Rudolph Günther, Jacobson Samuel G, Cideciyan Artur V, Schaich Simone, Kohl Susanne, Wissinger Bernd

Abstract excerpt

The ATP-binding cassette (ABC) transporters constitute a family of large membrane proteins, which transport a variety of substrates across membranes. The ABCA4 protein is expressed in photoreceptors and possibly functions as a transporter for N-retinylidene-phosphatidylethanolamine (N-retinylidene-PE), the Schiff base adduct of all-trans-retinal with PE. Mutations in the ABCA4 gene have been initially associated...

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 Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Chromosome Segregation

Share to Family

Share to Genes, Recessive

Share to Pedigree

Share to Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 18285826
DOI: 10.1038/ejhg.2008.23
PMCID: PMC2579899

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

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.PMID 18285826Read ↗

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

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

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

Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy.Semantic proximity Read ↗

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

ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy.Semantic proximity Read ↗

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

Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease.Semantic proximity Read ↗

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.Semantic proximity Read ↗

Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization.Semantic proximity Read ↗

[Clinical and genetic aspects of ABCA4-associated inherited retinal diseases].Semantic proximity Read ↗

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