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References

These sources were used to develop the Genetics Home Reference gene summary on the JAK2 gene.

Basquiera AL, Soria NW, Ryser R, Salguero M, Moiraghi B, Sackmann F, Sturich AG, Borello A, Berretta A, Bonafé M, Barral JM, Palazzo ED, García JJ. Clinical significance of V617F mutation of the JAK2 gene in patients with chronic myeloproliferative disorders. Hematology. 2009 Dec;14(6):323-30. doi: 10.1179/102453309X12473408860226. PubMed citation
Entrez Gene
James C. The JAK2V617F mutation in polycythemia vera and other myeloproliferative disorders: one mutation for three diseases? Hematology Am Soc Hematol Educ Program. 2008:69-75. doi: 10.1182/asheducation-2008.1.69. Review. PubMed citation
Patel RK, Lea NC, Heneghan MA, Westwood NB, Milojkovic D, Thanigaikumar M, Yallop D, Arya R, Pagliuca A, Gäken J, Wendon J, Heaton ND, Mufti GJ. Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. Gastroenterology. 2006 Jun;130(7):2031-8. PubMed citation
Spivak JL. Narrative review: Thrombocytosis, polycythemia vera, and JAK2 mutations: The phenotypic mimicry of chronic myeloproliferation. Ann Intern Med. 2010 Mar 2;152(5):300-6. doi: 10.1059/0003-4819-152-5-201003020-00008. Review. PubMed citation
Tefferi A. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia. 2010 Jun;24(6):1128-38. doi: 10.1038/leu.2010.69. Epub 2010 Apr 29. Review. PubMed citation

Reviewed: December 2011

Published: May 20, 2013