Somatic mutations of calreticulin in myeloproliferative neoplasms.

doi:10.1056/NEJMoa1311347

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Article

Somatic mutations of calreticulin in myeloproliferative neoplasms.

The New England journal of medicine - 19 Dec 2013

Klampfl Thorsten, Gisslinger Heinz, Harutyunyan Ashot S, Nivarthi Harini, Rumi Elisa, Milosevic Jelena D, Them Nicole C C, Berg Tiina, Gisslinger Bettina, Pietra Daniela, Chen Doris, Vladimer Gregory I, Bagienski Klaudia, Milanesi Chiara, Casetti Ilaria Carola, Sant'Antonio Emanuela, Ferretti Virginia, Elena Chiara, Schischlik Fiorella, Cleary Ciara, Six Melanie, Schalling Martin, Schönegger Andreas, Bock Christoph, Malcovati Luca, Pascutto Cristiana, Superti-Furga Giulio, Cazzola Mario, Kralovics Robert

Abstract excerpt

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...

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Identifiers

PMID: 24325356
DOI: 10.1056/NEJMoa1311347

Genes

CALR
JAK2
MPL

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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