Article
Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms.
Blood - 21 Jan 2016
Milosevic Feenstra Jelena D, Nivarthi Harini, Gisslinger Heinz, Leroy Emilie, Rumi Elisa, Chachoua Ilyas, Bagienski Klaudia, Kubesova Blanka, Pietra Daniela, Gisslinger Bettina, Milanesi Chiara, Jäger Roland, Chen Doris, Berg Tiina, Schalling Martin, Schuster Michael, Bock Christoph, Constantinescu Stefan N, Cazzola Mario, Kralovics Robert
Abstract excerpt
Essential thrombocythemia (ET) and primary myelofibrosis (PMF) are chronic diseases characterized by clonal hematopoiesis and hyperproliferation of terminally differentiated myeloid cells. The disease is driven by somatic mutations in exon 9 of CALR or exon 10 of MPL or JAK2-V617F in >90% of the cases, whereas the remaining cases are termed "triple negative." We aimed to identify the disease-causing mutations in...
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