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A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration

Rivera, A, White, K, Stöhr, H, Steiner, K, Hemmrich, N, Grimm, T, Jurklies, B, Lorenz, B, Scholl, H P N, Apfelstedt-Sylla, E and Weber, Bernhard H. F. (2000) A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration. The American Journal of Human Genetics 67 (4), pp. 800-813.

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Abstract

Stargardt disease (STGD) is a common autosomal recessive maculopathy of early and young-adult onset and is caused by alterations in the gene encoding the photoreceptor-specific ATP-binding cassette (ABC) transporter (ABCA4). We have studied 144 patients with STGD and 220 unaffected individuals ascertained from the German population, to complete a comprehensive, population-specific survey of the ...

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Item type:Article
Date:2000
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1086/303090DOI
10958763PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:35302
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