Article
Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome.
Molecular immunology - 1 Mar 2016
Szarvas Nóra, Szilágyi Ágnes, Csuka Dorottya, Takács Beáta, Rusai Krisztina, Müller Thomas, Arbeiter Klaus, Réti Marienn, Haris Ágnes, Wagner László, Török Szilárd, Kelen Kata, Szabó Attila J, Reusz György S, Morgan B Paul, Prohászka Zoltán
Abstract excerpt
Atypical hemolytic uremic syndrome (aHUS) is a rare disorder caused by dysregulation of the complement alternative pathway, and associated with mutations in genes of complement components and regulators. In the recent years several studies have been published describing these mutations, however, no data is available from the Central and Eastern European region. In this study we present a detailed genetic analysis...
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