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Somatic calreticulin mutations in patients with Budd-Chiari syndrome and portal vein thrombosis

# metadata.dc.description.abstract[].value
We studied the role of the recently identified CALR mutations in 141 patients with Budd-Chiari Syndrome (BCS) or portal vein thrombosis (PVT) in a large multinational cohort. A CALR mutation was present in one of the 141 patients (0.7%). This patient was previously diagnosed with primary myelofibrosis. This results in CALR positivity in one out of 44 (2.3%) patients with myeloproliferative neoplasm (MPN), and in one of 11 (9.1%) JAK2V617F negative patients diagnosed with MPN. We suggest that analysis of CALR mutations should be performed in JAK2V617F negative BCS and PVT patients...

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Articles publicats en revistes (Medicina)

# metadata.dc.title[].value
Somatic calreticulin mutations in patients with Budd-Chiari syndrome and portal vein thrombosis