The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.

doi:10.1002/humu.20435

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Article

The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.

Human mutation - 1 Mar 2007

Saunders Rebecca E, Abarrategui-Garrido Cynthia, Frémeaux-Bacchi Véronique, Goicoechea de Jorge Elena, Goodship Timothy H J, López Trascasa Margarita, Noris Marina, Ponce Castro Isabel Maria, Remuzzi Giuseppe, Rodríguez de Córdoba Santiago, Sánchez-Corral Pilar, Skerka Christine, Zipfel Peter F, Perkins Stephen J

Abstract excerpt

Atypical hemolytic uremic syndrome (aHUS) is a disease of hemolytic anemia, thrombocytopenia, and renal failure associated with defective alternative pathway (AP) complement control. Previously, we presented a database (www.FH-HUS.org) focusing on aHUS mutations in the Factor H gene (CFH). Here, new aHUS mutations are reported for the complement regulatory proteins Factor H (FH), Factor I (FI), and membrane...

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PMID: 17089378
DOI: 10.1002/humu.20435

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