Congenital amegakaryocytic thrombocytopenia in three siblings: molecular analysis of atypical clinical presentation
- 31 October 2005
- journal article
- Published by Elsevier in Experimental Hematology
- Vol. 33 (10) , 1215-1221
- https://doi.org/10.1016/j.exphem.2005.06.017
Abstract
No abstract availableKeywords
This publication has 18 references indexed in Scilit:
- Allogeneic stem cell transplantation for patients with congenital amegakaryocytic thrombocytopenia (CAT)Bone Marrow Transplantation, 2004
- ThrombopoietinAnnals of the New York Academy of Sciences, 2003
- Thrombopoietin Is Essential for the Maintenance of Normal Hematopoiesis in HumansAnnals of the New York Academy of Sciences, 2003
- Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopeniaBritish Journal of Haematology, 2002
- Successful Engraftment of Unrelated Donor Stem Cells in Two Children With Congenital Amegakaryocytic ThrombocytopeniaJournal of Pediatric Hematology/Oncology, 2002
- c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopeniaBlood, 2001
- Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor ( c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT)Human Genetics, 2000
- Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopeniaBritish Journal of Haematology, 2000
- Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopeniaProceedings of the National Academy of Sciences, 1999
- Engraftment of unrelated donor stem cells in children with familial amegakaryocytic thrombocytopeniaBone Marrow Transplantation, 1998