Article
The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome.
Journal of the American Society of Nephrology : JASN - 1 Mar 2008
Martinez-Barricarte Ruben, Pianetti Gaia, Gautard Ruxandra, Misselwitz Joachim, Strain Lisa, Fremeaux-Bacchi Veronique, Skerka Christine, Zipfel Peter F, Goodship Tim, Noris Marina, Remuzzi Giuseppe, de Cordoba Santiago Rodriguez
Abstract excerpt
Mutations in the gene encoding complement factor H (CFH) that alter the C3b/polyanions-binding site in the C-terminal region impair the capacity of factor H to protect host cells. These mutations are also strongly associated with atypical hemolytic uremic syndrome (aHUS). Although most of the aHUS-associated CFH mutations seem "unique" to an individual patient or family, the R1210C mutation has been reported in...
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