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Article

Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies.

Molecular genetics and genomics : MGG - 1 Oct 2010

Zangerl B, Lindauer S J, Acland G M, Aguirre G D

Abstract excerpt

Over 200 mutations in the retina specific member of the ATP-binding cassette transporter superfamily (ABCA4) have been associated with a diverse group of human retinal diseases. The disease mechanisms, and genotype-phenotype associations, nonetheless, remain elusive in many cases. As orthologous genes are commonly mutated in canine models of human blinding disorders, canine ABCA4 appears to be an ideal candidate...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20661590
DOI: 10.1007/s00438-010-0560-5
PMCID: PMC2954605

Genes

ABCA4

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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.

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