Novel mutations in a child with congenital amegakaryocytic thrombocytopenia [1]

British Journal of Haematology

Volumn 135, Issue 5, 2006, Pages 742-743

  Pemberton, Lucy C ^a   Levett, Diana ^b   Skinner, Roderick ^b,c   Hall, Andrew G ^b   Hanley, John P ^a  

^a ROYAL VICTORIA INFIRMARY   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

C MPL; Congenital amegakaryocytic thrombocytopenia; Thrombopoietin

Indexed keywords

ALLELE; CASE REPORT; CHILD; CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA; DISEASE COURSE; GENE MUTATION; HUMAN; LETTER; MALE; NEUTROPENIA; PANCYTOPENIA; PEDIGREE; PRIORITY JOURNAL; STEM CELL TRANSPLANTATION; THROMBOCYTE COUNT; THROMBOCYTOPENIA;

DNA MUTATIONAL ANALYSIS; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MEGAKARYOCYTES; PEDIGREE; POINT MUTATION; RECEPTORS, THROMBOPOIETIN; THROMBOCYTOPENIA;

EID: 33750560435     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2006.06358.x     Document Type: Letter

References (4)

1. Ballmaier, M., Germeshausen, M., Schulze, H., Cherkaoui, K., Lang, S., Gaudig, A., Krukemeier, S., Eilers, M., Strauss, G. & Welte, K. (2001) c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. Blood, 97, 139-146.
2. Drachman, J.G. (2004) Inherited thrombocytopenia: when a low platelet count does not mean ITP. Blood, 103, 390-398.
3. Ihara, K., Ishii, E., Eguchi, M., Takada, H., Suminoe, A., Good, R.A. & Hara, T. (1999) Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. Proceedings of the National Academy of Sciences of the United States of America, 96, 3132-3136.
4. van den Oudenrijn, S., Bruin, M., Folman, C.C., Peters, M., Faulkner, L.B., de Haas, M. & von dem Borne, A.E. (2000) Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. British Journal of Haematology, 110, 441-448.