Further evidence for an association of ABCR alleles with age-related macular degeneration

American Journal of Human Genetics

Volumn 67, Issue 2, 2000, Pages 487-491

  Allikmets, R ^a   Tammur, J ^a   Hutchinson, A ^a   Lewis, R A ^a   Shroyer, N F ^a   Dalakishvili, K ^a   Lupski, J R ^a   Steiner, K ^a   Pauleikhoff, D ^a   Holz, F G ^a   Weber, B H F ^a   Dean, M ^a   Atkinson, A ^a   Gail, M H ^a   Bernstein, P S ^a   Singh, N ^a   Zabriskie, N ^a   Peiffer, A ^a   Leppert, M ^a   Seddon, J M ^a   Zhang, K ^a   Sunness, J S ^a   Udar, N S ^a   Yelchits, S ^a   Silva Garcia, R ^a   Small, K W ^a   Simonelli, F ^a   Testa, F ^a   D'Urso, M ^a   Brancato, R ^a   Rinaldi, E ^a   Ingvast, S ^a   Taube, A ^a   Wadelius, C ^a   Souied, E ^a   Ducroq, D ^a   Kaplan, J ^a   Assink, J J M ^a   Ten Brink, J B ^a   De Jong, P T V M ^a   Bergen, A A B ^a   Maugeri, A ^a   Van Driel, M A ^a   Hoyng, C B ^a   Cremers, F P M ^a   Paloma, E ^a   Coco, R ^a   Balcells, S ^a   Gonzalez Duarte, R ^a   Kermani, S ^a   Stanga, P ^a   Bhattacharya, S S ^a   Bird, A C ^a   more..

^a Eye Research Addition ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

ABCR GENE; ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; GENE LOCUS; GENETIC RISK; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; SMOKING; VISUAL IMPAIRMENT;

MARTES PENNANTI; TRIXIS;

EID: 0033859128     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/303018     Document Type: Article

References (23)

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9. Biogenesis of lipofuscin in retina and RPE of ABCR knockout mice and humans with ABCR-mediated macular degenerations
10. Nearly all single base substitutions in DNA fragments joined to a GC- clamp can be detected by denaturing gradient gel electrophoresis
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12. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
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14. Use of parents, sibs, and unrelated controls for detection of associations between genetic markers and disease
15. The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: From monogenic to multifactorial
16. Age-related macular degeneration in grandparents of patients with Stargardt disease: Genetic study
17. Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration
18. Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease
19. The development of choroidal neovascularization in eyes with the geographic atrophy form of age-related macular degeneration
20. The prevalence of age-related maculopathy in the Rotterdam Study
21. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in ABCR knockout mice