A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome
- 1 March 2007
- journal article
- case report
- Published by Springer Nature in Pediatric Nephrology
- Vol. 22 (3), 371-375
- https://doi.org/10.1007/s00467-006-0320-2
Abstract
No abstract availableKeywords
This publication has 19 references indexed in Scilit:
- Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcomeBlood, 2006
- Prevention of C5 activation ameliorates spontaneous and experimental glomerulonephritis in factor H-deficient miceProceedings of the National Academy of Sciences, 2006
- Sustained response and long-term safety of eculizumab in paroxysmal nocturnal hemoglobinuriaBlood, 2005
- Mutations in Complement Factor I Predispose to Development of Atypical Hemolytic Uremic SyndromeJournal of the American Society of Nephrology, 2005
- The Catalytically Active Serine Protease Domain of Human Complement Factor IBiochemistry, 2005
- Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32Human Molecular Genetics, 2005
- Functional analysis of the classical, alternative, and MBL pathways of the complement system: standardization and validation of a simple ELISAJournal of Immunological Methods, 2004
- Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndromeJournal of Medical Genetics, 2004
- Predominant role for C5b-9 in renal ischemia/reperfusion injuryJournal of Clinical Investigation, 2000
- Effects of Renal Failure on Complement C3d LevelsNephron, 1991