Somatic mutations of calreticulin in myeloproliferative neoplasms.

@article{Klampfl2013SomaticMO,
  title={Somatic mutations of calreticulin in myeloproliferative neoplasms.},
  author={Thorsten Klampfl and Heinz Gisslinger and Ashot S Harutyunyan and Harini Nivarthi and Elisa Rumi and Jelena D. Milosevic and Nicole C.C. Them and Tiina Berg and Bettina Gisslinger and Daniela Pietra and Doris Chen and Gregory I. Vladimer and Klaudia Bagienski and Chiara Milanesi and Ilaria Carola Casetti and Emanuela Sant'antonio and Virginia Valeria Ferretti and Chiara Elena and Fiorella Schischlik and Ciara Cleary and Melanie Six and Martin Schalling and Andreas Schoenegger and Christoph Bock and Luca Malcovati and Cristiana Pascutto and Giulio Superti-Furga and Mario Cazzola and Robert Kralovics},
  journal={The New England journal of medicine},
  year={2013},
  volume={369 25},
  pages={
          2379-90
        }
}
BACKGROUND Approximately 50 to 60% of patients with essential thrombocythemia or primary myelofibrosis carry a mutation in the Janus kinase 2 gene (JAK2), and an additional 5 to 10% have activating mutations in the thrombopoietin receptor gene (MPL). So far, no specific molecular marker has been identified in the remaining 30 to 45% of patients. METHODS We performed whole-exome sequencing to identify somatically acquired mutations in six patients who had primary myelofibrosis without… CONTINUE READING

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