Article
JAK2 mutation-related disease and thrombosis.
Seminars in thrombosis and hemostasis - 1 Jul 2013
Vannucchi Alessandro M, Guglielmelli Paola
Abstract excerpt
A recurrent JAK2V617F mutation is typically associated with chronic myeloproliferative neoplasms (MPNs) that include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis. This mutation results in a gain of function that is credited to underlie most of the pathogenesis and phenotypic characteristics of these disorders; it serves as a key diagnostic marker and represents a suitable...
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