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Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms.
Tapper W, Jones AV, Kralovics R, Harutyunyan AS, Zoi K, Leung W, Godfrey AL, Guglielmelli P, Callaway A, Ward D, Aranaz P, White HE, Waghorn K, Lin F, Chase A, Baxter EJ, Maclean C, Nangalia J, Chen E, Evans P, Short M, Jack A, Wallis L, Oscier D, Duncombe AS, Schuh A, Mead AJ, Griffiths M, Ewing J, Gale RE, Schnittger S, Haferlach T, Stegelmann F, Döhner K, Grallert H, Strauch K, Tanaka T, Bandinelli S, Giannopoulos A, Pieri L, Mannarelli C, Gisslinger H, Barosi G, Cazzola M, Reiter A, Harrison C, Campbell P, Green AR, Vannucchi A, Cross NC. Tapper W, et al. Nat Commun. 2015 Apr 7;6:6691. doi: 10.1038/ncomms7691. Nat Commun. 2015. PMID: 25849990 Free PMC article.
The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms.
Jones AV, Campbell PJ, Beer PA, Schnittger S, Vannucchi AM, Zoi K, Percy MJ, McMullin MF, Scott LM, Tapper W, Silver RT, Oscier D, Harrison CN, Grallert H, Kisialiou A, Strike P, Chase AJ, Green AR, Cross NC. Jones AV, et al. Blood. 2010 Jun 3;115(22):4517-23. doi: 10.1182/blood-2009-08-236448. Epub 2010 Mar 19. Blood. 2010. PMID: 20304805 Free PMC article. Clinical Trial.