The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20.

@article{Caprioli2001TheMB,
  title={The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20.},
  author={Jessica Caprioli and Paola Bettinaglio and Peter F Zipfel and Barbara Amadei and Erica Daina and Sara Gamba and Christine Skerka and Nicola Marziliano and Giuseppe Remuzzi and Marina Noris},
  journal={Journal of the American Society of Nephrology : JASN},
  year={2001},
  volume={12 2},
  pages={297-307}
}
The aim of the present study was to clarify whether factor H mutations were involved in genetic predisposition to hemolytic uremic syndrome, by performing linkage and mutation studies in a large number of patients from those referred to the Italian Registry for Recurrent and Familial HUS/TTP. PCR and Western blot analyses were conducted to characterize the biochemical consequences of the mutations. Five mutations in the factor H gene were identified. Three, identified in two families and in a… CONTINUE READING
108 Extracted Citations
0 Extracted References
Similar Papers

Citing Papers

Publications influenced by this paper.
Showing 1-10 of 108 extracted citations

Similar Papers

Loading similar papers…