Article
Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I.
European journal of immunology - 1 Jan 2010
Nilsson Sara C, Kalchishkova Nikolina, Trouw Leendert A, Fremeaux-Bacchi Veronique, Villoutreix Bruno O, Blom Anna M
Abstract excerpt
The complement system is regulated by inhibitors such as factor I (FI), a serine protease that degrades activated complement factors C4b and C3b in the presence of specific cofactors. Mutations and polymorphisms in FI and its cofactors are associated with atypical hemolytic uremic syndrome (aHUS)...
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