Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.

@article{PrezCaballero2001ClusteringOM,
  title={Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.},
  author={David P{\'e}rez-Caballero and Carolina Gonz{\'a}lez-Rubio and Mar{\'i}a Esther Gallardo and Manuel Vera and Margarita L{\'o}pez-Trascasa and Santiago Rodr{\'i}guez de C{\'o}rdoba and Pilar S{\'a}nchez-Corral},
  journal={American journal of human genetics},
  year={2001},
  volume={68 2},
  pages={478-84}
}
Hemolytic-uremic syndrome (HUS) is a microvasculature disorder leading to microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Most cases of HUS are associated with epidemics of diarrhea caused by verocytotoxin-producing bacteria, but atypical cases of HUS not associated with diarrhea (aHUS) also occur. Early studies describing the association of aHUS with deficiencies of factor H suggested a role for this complement regulator in aHUS. Molecular evidence of factor H… CONTINUE READING