Associated Papers
An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.
Gastoldi S et al.
Frontiers in Immunology, 2023
Phenotypic Expression of CFH Rare Variants in Age-Related Macular Degeneration Patients in the Coimbra Eye Study.
Farinha C et al.
Investigative Ophthalmology & Visual Science, 2022
35925583 (PubMed )
Supplement: iovs-63-9-5_s002.pdf
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
de Jong S et al.
Human Molecular Genetics, 2022
34508573 (PubMed )
Supplement: supp_table_1_ddab256.xlsx › individual_variants
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 › CFH
New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3.
Rodriguez E et al.
Bioscience Reports, 2014
Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.
Bresin E et al.
Journal of the American Society of Nephrology : Jasn, 2013
Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.
de Córdoba SR et al.
Clinical and Experimental Immunology, 2008
The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.
Saunders RE et al.
Human Mutation, 2007
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