Article
Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.
Journal of the American Society of Nephrology : JASN - 1 Feb 2013
Bresin Elena, Rurali Erica, Caprioli Jessica, Sanchez-Corral Pilar, Fremeaux-Bacchi Veronique, Rodriguez de Cordoba Santiago, Pinto Sheila, Goodship Timothy H J, Alberti Marta, Ribes David, Valoti Elisabetta, Remuzzi Giuseppe, Noris Marina
Abstract excerpt
Several abnormalities in complement genes reportedly contribute to atypical hemolytic uremic syndrome (aHUS), but incomplete penetrance suggests that additional factors are necessary for the disease to manifest. Here, we sought to describe genotype-phenotype correlations among patients with combined mutations, defined as mutations in more than one complement gene. We screened 795 patients with aHUS and identified...
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