Article
The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome.
Journal of medical genetics - 1 Jul 2009
Dragon-Durey M-A, Blanc C, Marliot F, Loirat C, Blouin J, Sautes-Fridman C, Fridman W H, Frémeaux-Bacchi V
Abstract excerpt
BACKGROUND: 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...
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