FUNCTIONAL ANALYSIS OF VARIANTS IN COMPLEMENT FACTOR I IDENTIFIED IN AGE-RELATED MACULAR DEGENERATION AND ATYPICAL HEMOLYTIC UREMIC SYNDROME

Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome

Complement factor I (FI) is a central inhibitor of the complement system, and impaired FI function increases complement activation, contributing to diseases such as age-related macular degeneration (AMD) and atypical hemolytic uremic syndrome (aHUS).Genetic variation in complement factor I (CFI) has been identified in both AMD and aHUS, with more t

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