Article
Effect of rare coding variants in the CFI gene on Factor I expression levels.
Human molecular genetics - 11 Aug 2020
de Jong Sarah, Volokhina Elena B, de Breuk Anita, Nilsson Sara C, de Jong Eiko K, van der Kar Nicole C A J, Bakker Bjorn, Hoyng Carel B, van den Heuvel Lambert P, Blom Anna M, den Hollander Anneke I
Abstract excerpt
Factor I (FI) is one of the main inhibitors of complement activity, and numerous rare coding variants have been reported in patients with age-related macular degeneration, atypical hemolytic uremic syndrome and C3 glomerulopathy. Since many of these variants are of unknown clinical significance, this study aimed to determine the effect of rare coding variants in the complement factor I (CFI) gene on FI...
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