Article
Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2.
The New England journal of medicine - 19 Dec 2013
Nangalia J, Massie C E, Baxter E J, Nice F L, Gundem G, Wedge D C, Avezov E, Li J, Kollmann K, Kent D G, Aziz A, Godfrey A L, Hinton J, Martincorena I, Van Loo P, Jones A V, Guglielmelli P, Tarpey P, Harding H P, Fitzpatrick J D, Goudie C T, Ortmann C A, Loughran S J, Raine K, Jones D R, Butler A P, Teague J W, O'Meara S, McLaren S, Bianchi M, Silber Y, Dimitropoulou D, Bloxham D, Mudie L, Maddison M, Robinson B, Keohane C, Maclean C, Hill K, Orchard K, Tauro S, Du M-Q, Greaves M, Bowen D, Huntly B J P, Harrison C N, Cross N C P, Ron D, Vannucchi A M, Papaemmanuil E, Campbell P J, Green A R
Abstract excerpt
BACKGROUND: Somatic mutations in the Janus kinase 2 gene (JAK2) occur in many myeloproliferative neoplasms, but the molecular pathogenesis of myeloproliferative neoplasms with nonmutated JAK2 is obscure, and the diagnosis of these neoplasms remains a challenge. METHODS: We performed exome sequencing of samples obtained from 151 patients with myeloproliferative neoplasms. The mutation status of the gene encoding...
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