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Complement regulation at necrotic cell lesions is impaired by the age-related macular degeneration-associated factor-H His402 risk variant

Lauer, N., Mihlan, M., Hartmann, A., Schlötzer-Schrehardt, U., Keilhauer, C., Scholl, H. P., Charbel Issa, P., Holz, F., Weber, Bernhard H. F. , Skerka, C. and Zipfel, P. F. (2011) Complement regulation at necrotic cell lesions is impaired by the age-related macular degeneration-associated factor-H His402 risk variant. The Journal of Immunology 187 (8), pp. 4374-4383.

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Other URL: http://www.jimmunol.org/content/187/8/4374.long


Abstract

Age-related macular degeneration is a leading form of blindness in Western countries and is associated with a common SNP (rs 1061170/Y402H) in the Factor H gene, which encodes the two complement inhibitors Factor H and FHL1. However, the functional consequences of this Tyr(402) His exchange in domain 7 are not precisely defined. In this study, we show that the Tyr(402) His sequence variation ...

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Item type:Article
Date:2011
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.4049/jimmunol.1002488DOI
21930971PubMed 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:36026
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