The Complement Factor H R1210C Mutation Is Associated With Atypical Hemolytic Uremic Syndrome

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-a...

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Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society of Nephrology 2008
Materias:
Clinical Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2391060/
https://ncbi.nlm.nih.gov/pubmed/18235085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2007080923
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