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Article

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

Human molecular genetics - 1 Mar 1998

Cremers F P, van de Pol D J, van Driel M, den Hollander A I, van Haren F J, Knoers N V, Tijmes N, Bergen A A, Rohrschneider K, Blankenagel A, Pinckers A J, Deutman A F, Hoyng C B

Abstract excerpt

Ophthalmological and molecular genetic studies were performed in a consanguineous family with individuals showing either retinitis pigmentosa (RP) or cone-rod dystrophy (CRD). Assuming pseudodominant (recessive) inheritance of allelic defects, linkage analysis positioned the causal gene at 1p21-p13 (lod score 4.22), a genomic segment known to harbor the ABCR gene involved in Stargardt's disease (STGD) and...

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PMID: 9466990
DOI: 10.1093/hmg/7.3.355

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.PMID 9466990Read ↗

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

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Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene.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 ↗

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The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.Semantic proximity Read ↗

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