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- Title
Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome.
- Authors
Kavanagh, David; Anderson, Holly E
- Abstract
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.
- Subjects
HEMOLYTIC-uremic syndrome; GENETIC mutation; MEDICAL screening; MANAGEMENT science; DIAGNOSIS
- Publication
Kidney International, 2012, Vol 81, Issue 1, p11
- ISSN
0085-2538
- Publication type
Article
- DOI
10.1038/ki.2011.330