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Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

Zhan, X, Larson, D E, Wang, C, Koboldt, D C, Sergeev, Y V, Fulton, R S, Fulton, L L, Fronick, C C, Branham, K E, Bragg-Gresham, J, Jun, G, Hu, Y, Kang, H M, Liu, D, Weber, Bernhard H. F. and et. al, . (2013) Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nature Genetics 45, pp. 1375-1379.

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Abstract

Macular degeneration is a common cause of blindness in the elderly. To identify rare coding variants associated with a large increase in risk of age-related macular degeneration (AMD), we sequenced 2,335 cases and 789 controls in 10 candidate loci (57 genes). To increase power, we augmented our control set with ancestry-matched exome-sequenced controls. An analysis of coding variation in 2,268 ...

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Item type:Article
Date:2013
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1038/ng.2758DOI
24036949PubMed 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:35370
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