Ontology highlight
ABSTRACT:
SUBMITTER: Martinez-Barricarte R
PROVIDER: S-EPMC2391060 | biostudies-literature | 2008 Mar
REPOSITORIES: biostudies-literature
Martinez-Barricarte Ruben R Pianetti Gaia G Gautard Ruxandra R Misselwitz Joachim J Strain Lisa L Fremeaux-Bacchi Veronique V Skerka Christine C Zipfel Peter F PF Goodship Tim T Noris Marina M Remuzzi Giuseppe G de Cordoba Santiago Rodriguez SR
Journal of the American Society of Nephrology : JASN 20080130 3
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 several unrelated aHUS patients from distinct geographic origins. Five aHUS pedigrees ...[more]