Polycythemia vera

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Clinical criteria

JAK2 mutations

Mutations in the JAK2 gene, specifically at the V617F locus, give rise to myeloproliferative disorders such as essential thrombocythemia and polycythemia vera.[1]

Authors reported[2] that other mutations of the coding region of the JAK2 gene could create a polycythemia phenotype.

References

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