Article
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
Human mutation - 1 Jun 2010
Maga Tara K, Nishimura Carla J, Weaver Amy E, Frees Kathy L, Smith Richard J H
Abstract excerpt
Atypical hemolytic uremic syndrome (aHUS) is characterized by acute renal failure, thrombocytopenia and microangiopathic hemolytic anemia, and occurs with an estimated incidence in the USA of 2 per 1,000,000. Disease pathogenesis is related to dysregulation of the alternative pathway (AP) of the complement cascade at the level of the cell membrane secondary to mutations in a number of complement genes including...
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