Polycythemia vera
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Clinical criteria
JAK2 mutations
[1], specifically at the V617F locus, give rise to myeloproliferative disorders such as essential thrombocythemia and polycythemia vera.
Authors [2] that other mutations of the coding region of the JAK2 gene could create a polycythemia phenotype.
[3]Scott, et al. New Engl J Med 356: 459-468 2007. [4]James, et al. Nature 434:1144-8 2005.