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Article

Organization of the ABCR gene: analysis of promoter and splice junction sequences.

Gene - 17 Jul 1998

Allikmets R, Wasserman W W, Hutchinson A, Smallwood P, Nathans J, Rogan P K, Schneider T D, Dean M

Abstract excerpt

Mutations in the human ABCR gene have been associated with the autosomal recessive Stargardt disease (STGD), retinitis pigmentosa (RP19), and cone-rod dystrophy (CRD) and have also been found in a fraction of age-related macular degeneration (AMD) patients. The ABCR gene is a member of the ATP-binding cassette (ABC) transporter superfamily and encodes a rod photoreceptor-specific membrane protein. The cytogenetic...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 9666097
DOI: 10.1016/s0378-1119(98)00269-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Organization of the ABCR gene: analysis of promoter and splice junction sequences.PMID 9666097Read ↗

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The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly.Semantic proximity Read ↗

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.Semantic proximity Read ↗

Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease.Semantic proximity Read ↗

A photoreceptor cell-specific ATP-binding trans- porter gene (ABCR) is mutated in recessive Star- gardt macular dystrophy.Semantic proximity Read ↗

Biochemical defects in ABCR protein variants associated with human retinopathies.Semantic proximity Read ↗

The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorialSemantic proximity Read ↗

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.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 ↗

Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.Semantic proximity Read ↗

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

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