Selective testing for calreticulin gene mutations in patients with splanchnic vein thrombosis: A prospective cohort study.

doi:10.1016/j.jhep.2017.04.021

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Article

Selective testing for calreticulin gene mutations in patients with splanchnic vein thrombosis: A prospective cohort study.

Journal of hepatology - 1 Sept 2017

Poisson Johanne, Plessier Aurélie, Kiladjian Jean-Jacques, Turon Fanny, Cassinat Bruno, Andreoli Annalisa, De Raucourt Emmanuelle, Goria Odile, Zekrini Kamal, Bureau Christophe, Lorre Florence, Cervantes Francisco, Colomer Dolors, Durand François, Garcia-Pagan Juan-Carlos, Casadevall Nicole, Valla Dominique-Charles, Rautou Pierre-Emmanuel, Marzac Christophe

Abstract excerpt

BACKGROUND AND AIMS: Myeloproliferative neoplasms (MPN) are the leading cause of splanchnic vein thrombosis (SVT). Janus kinase 2 gene (JAK2)V617F mutations are found in 80 to 90% of patients with SVT and MPN. Mutations of the calreticulin (CALR) gene have also been reported. However, as their prevalence ranges from 0 to 2%, the utility of routine testing is questionable. This study aimed to identify a group of...

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PMID: 28483676
DOI: 10.1016/j.jhep.2017.04.021

Genes

CALR
MPL
JAK2

Variants

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