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Lookup NU author(s): Professor David KavanaghORCiD,
Dr Holly Anderson
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Mutations in complement proteins predispose to atypical hemolytic uremic syndrome (aHUS). Mutation screening in aHUS is challenging, because most of the disease-associated mutations are individually rare, and a significant proportion of variants consist of missense mutations of unknown significance. The definitive interpretation of a variant of unknown significance (VUS) is often dependent on a reliable functional assay too time-consuming to be used in a diagnostic screening service. Allied research groups have analyzed these VUSs in aHUS.
Author(s): Kavanagh D, Anderson HE
Publication type: Article
Publication status: Published
Journal: Kidney International
Print publication date: 16/12/2011
ISSN (print): 0085-2538
ISSN (electronic): 1523-1755
Publisher: Nature Publishing Group
PubMed id: 22170528
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