Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome
- Lookup NU author(s)
- Dr David Kavanagh
- Holly Anderson
|
|
|
|
| Author(s) | | Kavanagh D, Anderson HE |
| Publication type | | Article |
| Journal | | Kidney International |
| Year | | 2012 |
| Volume | | 81 |
| Issue | | 1 |
| Pages | | 11-3 |
| ISSN (print) | | 0085-2538 |
| ISSN (electronic) | | 1523-1755 |
|
|
|
| Full text for this publication is not currently held within this repository. Alternative links are provided below where available. |
|
|
|
|
| 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. |
|
|
|
| Publisher | | Nature Publishing Group |
| URL | | http://dx.doi.org/10.1038/ki.2011.330 |
| DOI | | 10.1038/ki.2011.330 |
| PubMed id | | 22170528 |
|
|
Actions | |   |
