Open AccessA de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family
Author(s) -
Kun Liu,
Róbert Královics,
Zbigniew Rudzki,
Barbara Grabowska,
Andreas Buser,
Damla Olcaydu,
Heinz Gisslinger,
Ralph Tiedt,
Patricia Frank,
Krzysztof Okoń,
A. P. C. van der Maas,
Radek C. Skoda
Publication year - 2008
Publication title -
haematologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.782
H-Index - 142
eISSN - 1592-8721
pISSN - 0390-6078
DOI - 10.3324/haematol.11801
Subject(s) - essential thrombocythemia , thrombocytosis , thrombopoietin , thrombopoietin receptor , genetics , mutation , biology , germline mutation , transversion , immunology , medicine , polycythemia vera , gene , platelet , haematopoiesis , stem cell
Hereditary thrombocythemia is an autosomal dominant disorder with clinical features resembling sporadic essential thrombocythemia. Germline mutations in families with hereditary thrombocythemia have been identified in the gene for thrombopoietin (TPHO) and its receptor, MPL.