Condition: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
rs121964914 in
CFI gene and
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
PMID 19821824 2010 Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom.
PMID 15173250 2004 Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.
PMID 20513133 2010 Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
PMID 19846853 2009 Atypical hemolytic-uremic syndrome.
PMID 16621965 2006 Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.
PMID 17106690 2007 A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome.
PMID 22710145 2012 Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion.