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Article

JAK2 exon 14 skipping in patients with primary myelofibrosis: a minor splice variant modulated by the JAK2-V617F allele burden.

PloS one - 1 Jan 2015

Catarsi Paolo, Rosti Vittorio, Morreale Giacomo, Poletto Valentina, Villani Laura, Bertorelli Roberto, Pedrazzini Matteo, Zorzetto Michele, Barosi Giovanni

Abstract excerpt

BACKGROUND: Primary myelofibrosis (PMF) is an acquired clonal disease of the hematopoietic stem cell compartment, characterized by bone marrow fibrosis, anemia, splenomegaly and extramedullary hematopoiesis. About 60% of patients with PMF harbor a somatic mutation of the JAK2 gene (JAK2-V617F) in their hematopoietic lineage. Recently, a splicing isoform of JAK2, lacking exon 14 (JAK2Δ14) was described in patients...

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Identifiers

PMID: 25617626
DOI: 10.1371/journal.pone.0116636
PMCID: PMC4305294

Genes

JAK2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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JAK2 exon 14 skipping in patients with primary myelofibrosis: a minor splice variant modulated by the JAK2-V617F allele burden.PMID 25617626Read ↗

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