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

Gene symbol: ABCA4. Disease: Macular dystrophy.

Human genetics - 1 Jun 2008

Aguirre-Lamban Jana, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Trujillo-Tiebas M J, Villaverde-Montero C, Ayuso C

Abstract excerpt

No abstract is available from the source.

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
Share to ABCA4 gene
Share to Macular Degeneration

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Molecular Sequence Data

Share to Mutation

Source

Identifiers

PMID: 20960633

Genes

ABCA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Gene symbol: ABCA4. Disease: Macular dystrophy.PMID 20960633Read ↗

Gene symbol: ABCA4. Disease: Macular dystrophy.Semantic proximity Read ↗

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

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

The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease.Semantic proximity Read ↗

Assessment of ABCA4 Genetic Variants: Current Landscape and Future Prospects.Semantic proximity Read ↗

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

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

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

Retinal findings in a patient with mutations in ABCC6 and ABCA4.Semantic proximity Read ↗

Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.Semantic proximity Read ↗

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