| 1 | CAMT, MPL |
| Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT) | |
| Tonelli R, Scardovi AL, Pession A, Strippoli P, Bonsi L, Vitale L, Prete A, Locatelli F, Bagnara GP, Paolucci G. | |
| Hum Genet 107(3):225-33. 2000 | |
| 2 | CAMT, MPL |
| Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. | |
| van den Oudenrijn S, Bruin M, Folman CC, Peters M, Faulkner LB, de Haas M, von dem Borne AE. | |
| Br J Haematol 110(2):441-8. 2000 | |
| 3 | CAMT, MPL |
| Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. | |
| Ihara K, et al. | |
| Proc Natl Acad Sci U S A 96(6):3132-3136. 1999 | |
| 4 | CAMT |
| Defective response to thrombopoietin and impaired expression of c-mpl mRNA of bone marrow cells in congenital amegakaryocytic thrombocytopenia. | |
| Muraoka K, et al. | |
| Br J Haematol 96(2):287-92. 1997 | |