Comparative Study
doi: 10.1038/ng0397-236.
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
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- PMID: 9054934
- DOI: 10.1038/ng0397-236
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Comparative Study
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
Nat Genet.
1997 Mar.
Erratum in
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A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.Nat Genet. 1997 Sep;17(1):122. doi: 10.1038/ng0997-122a. Nat Genet. 1997. PMID: 9288113 No abstract available.
Abstract
Stargardt disease (STGD, also known as fundus flavimaculatus; FFM) is an autosomal recessive retinal disorder characterized by a juvenile-onset macular dystrophy, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. A gene encoding an ATP-binding cassette (ABC) transporter was mapped to the 2-cM (centiMorgan) interval at 1p13-p21 previously shown by linkage analysis to harbour the STGD gene. This gene, ABCR, is expressed exclusively and at high levels in the retina, in rod but not cone photoreceptors, as detected by in situ hybridization. Mutational analysis of ABCR in STGD families revealed a total of 19 different mutations including homozygous mutations in two families with consanguineous parentage. These data indicate that ABCR is the causal gene of STGD/FFM.
Comment in
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Widening the view.Nat Genet. 1997 Mar;15(3):224-5. doi: 10.1038/ng0397-224. Nat Genet. 1997. PMID: 9054926 No abstract available.
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Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR.Nat Genet. 1998 Jan;18(1):11-2. doi: 10.1038/ng0198-11. Nat Genet. 1998. PMID: 9425888 No abstract available.
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