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Article

Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera.

Haematologica - 1 Mar 2009

Schnittger Susanne, Bacher Ulrike, Haferlach Claudia, Geer Thomas, Müller Peter, Mittermüller Johann, Petrides Petro, Schlag Rudolf, Sandner Reiner, Selbach Johannes, Slawik Hans Rainer, Tessen Hans Werner, Wehmeyer Jürgen, Kern Wolfgang, Haferlach Torsten

Abstract excerpt

To further characterize JAK2 exon 12 mutations, we performed molecular screening in 409 patients with polycythemia vera or unclear erythrocytosis with unmutated JAK2V617. The frequency of JAK2exon12 mutations was 10/63 (15.9%) in PV but only 5/346 (1.4%) in the erythrocytosis cases. Nine different mutations including four new types (D544-L545del, H538DK539LI540S, H538-K539del, V536-F547dup) were detected. In 2...

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Identifiers

PMID: 19252176
DOI: 10.3324/haematol.13223
PMCID: PMC2649350

Genes

JAK2

Variants

Provenance

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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