Abstract
Thrombocytopenia with absent radii (TAR) is a rare autosomal recessive disease characterized by hypomegakaryocytic thrombocytopenia and bilateral radial aplasia. We performed mutational screening of coding and promoter regions of the c-mpl gene, encoding thrombopoietin (TPO) receptor, by sequence analysis in four unrelated patients affected by TAR syndrome. Our results indicate that c-mpl gene mutations are not a common cause of thrombocytopenia in TAR syndrome.
Original language | English |
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Pages (from-to) | 311-314 |
Number of pages | 4 |
Journal | British Journal of Haematology |
Volume | 103 |
Issue number | 2 |
DOIs | |
Publication status | Published - 1998 |
Keywords
- Congenital
- Megakaryocytopoiesis
- Mutational screening
- Thrombocytopenia absent radii syndrome
- TPO-c-mpl system
ASJC Scopus subject areas
- Hematology