Article
The JAK2 46/1 haplotype does not predispose to CALR-mutated myeloproliferative neoplasms.
Annals of hematology - 1 May 2015
Soler G, Bernal-Vicente A, Antón A I, Torregrosa J M, Caparrós-Pérez E, Sánchez-Serrano I, Martínez-Pérez A, Sánchez-Vega B, Vicente V, Ferrer-Marin F
Abstract excerpt
Somatic mutations in the CALR gene were recently discovered in a substantial proportion of Philadelphia-negative chronic myeloproliferative neoplasm (cMPN) patients lacking JAK2 and MPL mutations. Somatically acquired defects are not the only pathogenic mechanism involved in these disorders. Since germline JAK2 46/1 haplotype predisposes to cMPN-associated mutations, including JAK2V617F and MPLW515K7L, we...
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