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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. ; Zipfel, P. F.



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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