Article
Factor H and atypical hemolytic uremic syndrome: mutations in the C-terminus cause structural changes and defective recognition functions.
Journal of the American Society of Nephrology : JASN - 1 Jan 2006
Józsi Mihály, Heinen Stefan, Hartmann Andrea, Ostrowicz Clemens W, Hälbich Steffi, Richter Heiko, Kunert Anja, Licht Christoph, Saunders Rebecca E, Perkins Stephen J, Zipfel Peter F, Skerka Christine
Abstract excerpt
Atypical hemolytic uremic syndrome is a disease that is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Mutations in the complement regulator factor H are associated with the inherited form of the disease, and >60% of the mutations are located within the C terminus of factor H. The C-terminus of factor H, represented by short consensus repeat 19 (SCR19) and SCR20,...
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