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.

[2]Scott, et al. New Engl J Med 356: 459-468 2007. [1]James, et al. Nature 434:1144-8 2005.

  1. 1.0 1.1 Mutations in the JAK2 gene
  2. 2.0 2.1 reported