Comprehensive functional characterization of complement factor I rare variant genotypes identified in the SCOPE geographic atrophy cohort - Hallam, Thomas M.; Andreadi, Anneliza; Sharp, Scott J.; Brocklebank, Vicky; Gardenal, Emanuela; Dreismann, Anna; Arora, Rashi; Dennis, Marcus; Flaxel, Christina; Hall, Edward; Hoyng, Carel; Charbel Issa, Peter; et al. (The Journal of biological chemistry, 2024)
Keywords: age-related macular degeneration (AMD); Aged; atypical hemolytic uremic syndrome (aHUS); C3 glomerulopathy(C3G); Cohort Studies; complement; Complement C3b - genetics; Complement C3b - metabolism; complement factor I; Complement Factor I - genetics; Complement Factor I - metabolism; complement system; enzyme mutation; Female; Genotype; Geographic Atrophy - blood; Geographic Atrophy - genetics; Geographic Atrophy - metabolism; Humans; innate immunity; Macular Degeneration - genetics; Macular Degeneration - metabolism; Male; Middle Aged; retinal degeneration; C4BP; atypical hemolytic uremic syndrome (aHUS); CADD; retinal degeneration; RT; CFH; RV; complement system; CFI; aHUS; enzyme mutation; BSA; age-related macular degeneration (AMD); innate immunity; AMD; cDNA; GA; complement; NFEs; BBFA; TMC; CP; AP; C3 glomerulopathy(C3G); ORs; MAF; PBST; complement factor I