Associated Papers
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.
El Sissy C et al.
Frontiers in Immunology, 2019
31440263 (PubMed )
Supplement: Table_1.DOCX
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
Diseases of complement dysregulation-an overview.
Wong EKS et al.
Seminars in Immunopathology, 2018
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
Making sense of the spectrum of glomerular disease associated with complement dysregulation.
Johnson SA et al.
Pediatric Nephrology (berlin, Germany), 2014
The spectrum of phenotypes caused by variants in the CFH gene.
Boon CJ et al.
Molecular Immunology, 2009
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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