Article

Germline JAK2 Mutations In The Kinase Domain Are Responsible For Hereditary Thrombocytosis and Are Resistant To JAK2 and HSP90 Inhibitors

2013-11-15

Abstract excerpt

Abstract The main molecular basis of essential thrombocytemia and hereditary thrombocytosis are acquired and germline activating mutations affecting the thrombopoietin signaling axis, respectively. We have identified two families with hereditary thrombocytosis presenting novel heterozygous germline mutations of JAK2. One family carries the JAK2 R867Q mutation located in the kinase domain, while the other presents...

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Literature Corpus work: b2244cbe-dcc9-5ba1-a0bf-f5e665442acb
DOI: 10.1182/blood.v122.21.1603.1603

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