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. 2016 Dec 24;6(4):632–645. doi: 10.5500/wjt.v6.i4.632

Table 3.

Overview of mutations in complement factor H related protein genes

Genetic defect Phenotypical expression
Duplication in the CFHR5 gene C3 glomerulopathy (CFHR5 nephropathy)
Duplication in the CFHR1 gene C3 glomerulopathy
Hybrid CFHR3/CFHR1 gene C3 glomerulopathy
Hybrid CFHR2/CFHR5 gene C3 glomerulopathy
Hybrid CFH/CFHR1 gene aHUS
Hybrid CFH/CFHR3 gene aHUS

CFHR: Complement factor H related; aHUS: Atypical hemolytic uremic syndrome.