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- Title
The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome.
- Authors
Dragon-Durey, M-A; Blanc, C; Marliot, F; Loirat, C; Blouin, J; Sautes-Fridman, C; Fridman, W H; Frémeaux-Bacchi, V
- Abstract
Deletion of the complement factor H related 1 (CFHR1) gene is a consequence of non-allelic homologous recombination and has been reported to be more frequent in atypical haemolytic uraemic syndrome (aHUS) patients than in the normal population. Therefore, it is considered a susceptibility factor for the disease. aHUS is associated with hereditary or acquired abnormalities that lead to uncontrolled alternative pathway complement activation. We tested the CFHR1 deletion for association with aHUS in a population of French aHUS cases and controls. Furthermore, we examined the effect of the deletion in the context of known aHUS risk factors.
- Publication
Journal of medical genetics, 2009, Vol 46, Issue 7, p447
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmg.2008.064766