From gene to disease; from a thrombopoietin receptor gene defect to congenital amegakaryocytic thrombocytopenia;Van gen naar ziekte; van een tromboporëtinereceptorgendefect naar congenitale amegakaryocytaire trombocytopenie

Nederlands Tijdschrift voor Geneeskunde

Volumn 146, Issue 10, 2002, Pages 469-471

  Van Den Oudenrijn, S ^a   Bruin, M ^a   De Haas, M ^a   Von Dem Borne, A E G Kr ^a  

^a CENTRAL LABORATORY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN C MPL; THROMBOPOIETIN; THROMBOPOIETIN RECEPTOR; UNCLASSIFIED DRUG;

ALLOGENIC BONE MARROW TRANSPLANTATION; ARTICLE; BONE MARROW DEPRESSION; CHILD; CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA; GENE MUTATION; HUMAN; MEGAKARYOCYTE; MEGAKARYOPOIESIS; PROTEIN BLOOD LEVEL; THROMBOCYTOPENIA;

BONE MARROW TRANSPLANTATION; CHILD; HUMANS; MEGAKARYOCYTES; MUTATION; NEOPLASM PROTEINS; PROTO-ONCOGENE PROTEINS; RECEPTORS, CYTOKINE; RECEPTORS, THROMBOPOIETIN; THROMBOCYTOPENIA; THROMBOPOIETIN;

EID: 0037045912     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Defective response to thrombopoietin and impaired expression of c-mpl mRNA of bone marrow cells in congenital amegakaryocytic thrombocytopenia
2. Congenital amegakaryocytic thrombocytopenia: An intrinsic hematopoietic stem cell defect
3. Acquired amegakaryocytic thrombocytopaenia in a child
4. Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia
5. Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia
6. c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia