Defective C3d caused by C3 p.W1034R in inherited atypical hemolytic uremic syndrome – PubMed
C3 p.W1034R results in an inherited form of aHUS that often presents with recurrent episodes, possibly because of impaired interactions between the C3d and C-terminal domains of factor H. Following comprehensive genomic analysis, functional validation of C3 p.W1034R strengthens the molecular basis f …