An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia.

doi:10.1038/ng0198-49

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Article

An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia.

Nature genetics - 1 Jan 1998

Wiestner A, Schlemper R J, van der Maas A P, Skoda R C

Abstract excerpt

Essential thrombocythaemia (ET) is a chronic myeloproliferative syndrome due to sustained proliferation of megakaryocytes, which results in elevated numbers of circulating platelets, thrombotic or haemorrhagic episodes and occasional leukaemic transformation. The cause of ET is unknown. Hereditar...

Topics

Animals
COS Cells
Female
Humans
Introns
Male
Mutation
Pedigree
Platelet Count
RNA Splicing
Rats
Thrombocytosis
Thrombopoietin
Tumor Cells, Cultured

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