Título:
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Somatic calreticulin mutations in patients with Budd-Chiari syndrome and portal vein thrombosis
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Autor/a:
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Plompen, Elisabeth P.C.; Valk, Peter J.M.; Chu, Isabel; Murad, Sarwa D.; Plessier, Aurelie; Turon, Fanny; Trebicka, Jonel; Primignani, Massimo; García Pagán, Juan Carlos; Valla, Dominique; Janssen, Harry L.A.; Leebeek, Frank W.G.
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Otros autores:
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Universitat de Barcelona |
Abstract:
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Carta a l'editor |
Abstract:
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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... |
Materia(s):
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-Hipertensió portal -Malalties del fetge -Mutació (Biologia) -Síndrome de Budd-Chiari -Portal hypertension -Liver diseases -Mutation (Biology) -Budd–Chiari syndrome |
Derechos:
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(c) Ferrata Storti Foundation, 2015
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Tipo de documento:
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Artículo Artículo - Versión publicada |
Editor:
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Ferrata Storti Foundation
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