Associated Papers
High prevalence of the hotspot complement factor I p.Ile357Met pathogenic variant in Tunisian atypical hemolytic uremic syndrome patients: report of three new cases and review of the literature.
Tajouri A et al.
Frontiers in Immunology, 2025
Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.
Seddon JM et al.
Ophthalmology Science, 2023
36909148 (PubMed )
Supplement: mmc1.pdf
Functional analysis of rare genetic variants in complement factor I in advanced age-related macular degeneration.
Java A et al.
Human Molecular Genetics, 2022
Complement Factor I Variants in Complement-Mediated Renal Diseases.
Zhang Y et al.
Frontiers in Immunology, 2022
Effect of rare coding variants in the CFI gene on Factor I expression levels.
de Jong S et al.
Human Molecular Genetics, 2020
Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.
Geerlings MJ et al.
Clinical Genetics, 2018
29888403 (PubMed )
Supplement: CGE-94-330-s001.zip › Appendix_S1 › Table_S4.xlsx › CFI
The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.
Geerlings MJ et al.
Molecular Immunology, 2017
27939104 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
24036952 (PubMed )
Supplement: NIHMS512112-supplement-1.pdf
Select a paper to view details