Article
[From gene to disease; from a thrombopoietin receptor gene defect to congenital amegakaryocytic thrombocytopenia].
Nederlands tijdschrift voor geneeskunde - 9 Mar 2002
van den Oudenrijn S, Bruin M, de Haas M, von dem Borne A E G Kr
Abstract excerpt
Congenital amegakaryocytic thrombocytopenia (CAMT) is an uncommon cause of thrombocytopenia in children. CAMT is characterised by an isolated thrombocytopenia and the near absence of megakaryocytes in the bone marrow. The gene involved in the development of CAMT has recently been described. In a number of CAMT patients, mutations in the thrombopoietin (Tpo) receptor gene, c-mpl, were found to be the likely cause...
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