Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome

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  2. Dr David Kavanagh
  3. Dr Holly Anderson
Author(s)Kavanagh D, Anderson HE
Publication type Article
JournalKidney International
ISSN (print)0085-2538
ISSN (electronic)1523-1755
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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.
PublisherNature Publishing Group
PubMed id22170528
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