GENE EXPRESSION AND MUTATIONS OF VON WILLEBRAND FACTOR AND OF OXYGEN RADICAL GENERATING ENZYMES IN FAMILIAL HEMOLYTIC URENIC SYNDROME AND THROMBOTIC THROMBOCYTOPENIC PURPURA
- 2 Anni 1996/1998
- 72.304€ Totale Fondi
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Pubblicazioni Scientifiche
- 2006 PLOS MEDICINE
Complement factor H gene abnormalities in haemolytic uraemic syndrome: From point mutations to hybrid gene
- 1999 Blood
Increased fragmentation of von Willebrand factor, due to abnormal cleavage of the subunit, parallels disease activity in recurrent hemolytic uremic syndrome and thrombotic thrombocytopenic purpura and discloses predisposition in families
- 1999 JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
Hypocomplementemia discloses genetic predisposition to hemolytic uremic syndrome and thrombotic thrombocytopenic purpura: Role of factor H abnormalities
