Article
Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.
PLoS genetics - 16 Mar 2007
Zipfel Peter F, Edey Matthew, Heinen Stefan, Józsi Mihály, Richter Heiko, Misselwitz Joachim, Hoppe Bernd, Routledge Danny, Strain Lisa, Hughes Anne E, Goodship Judith A, Licht Christoph, Goodship Timothy H J, Skerka Christine
Abstract excerpt
Atypical hemolytic uremic syndrome (aHUS) is associated with defective complement regulation. Disease-associated mutations have been described in the genes encoding the complement regulators complement factor H, membrane cofactor protein, factor B, and factor I. In this study, we show in two independent cohorts of aHUS patients that deletion of two closely related genes, complement factor H-related 1 (CFHR1) and...
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