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Article

JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.

The New England journal of medicine - 1 Feb 2007

Scott Linda M, Tong Wei, Levine Ross L, Scott Mike A, Beer Philip A, Stratton Michael R, Futreal P Andrew, Erber Wendy N, McMullin Mary Frances, Harrison Claire N, Warren Alan J, Gilliland D Gary, Lodish Harvey F, Green Anthony R

Abstract excerpt

BACKGROUND: The V617F mutation, which causes the substitution of phenylalanine for valine at position 617 of the Janus kinase (JAK) 2 gene (JAK2), is often present in patients with polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis. However, the molecular basis of these my...

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Identifiers

PMID: 17267906
DOI: 10.1056/NEJMoa065202
PMCID: PMC2873834

Genes

JAK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17267906-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.PMID 17267906Read ↗

The JAK2 exon 12 mutations: a comprehensive review.Semantic proximity Read ↗

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A unique activating mutation in JAK2 (V617F) is at the origin of polycythemia vera and allows a new classification of myeloproliferative diseases.Semantic proximity Read ↗

JAK2 exon 12 mutations in polycythemia vera or idiopathic erythrocytosisSemantic proximity Read ↗

Distinct effects of V617F and exon12-mutated JAK2 expressions on erythropoiesis in a human induced pluripotent stem cell (iPSC)-based model.Semantic proximity Read ↗

Bone marrow morphologic features in polycythemia vera with JAK2 exon 12 mutations.Semantic proximity Read ↗

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High frequency of JAK2 exon 12 mutations in Korean patients with polycythaemia vera: novel mutations and clinical significance.Semantic proximity Read ↗

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