The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20
J Caprioli, P Bettinaglio, PF Zipfel… - Journal of the …, 2001 - journals.lww.com
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 sporadic case, are heterozygous point …
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 sporadic case, are heterozygous point …