Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor ( c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT)

Roberto Tonelli1, Anna Lisa Scardovi1, Andrea Pession1, Pierluigi Strippoli2, Laura Bonsi2, Lorenza Vitale2, Arcangelo Prete1, Franco Locatelli3, Gian Paolo Bagnara2, G Paolucci1
1Department of Pediatrics University of Bologna Bologna Italy
2Institute of Istology, Faculty of Medicine, University of Bologna, Italy,
3Department of Pediatrics, University of Pavia, Pavia, Italy

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