Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders.

doi:10.1182/blood-2005-12-4852

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Article

Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders.

Blood - 1 Jul 2006

Bellanné-Chantelot Christine, Chaumarel Isabelle, Labopin Myriam, Bellanger Florence, Barbu Véronique, De Toma Claudia, Delhommeau François, Casadevall Nicole, Vainchenker William, Thomas Gilles, Najman Albert

Abstract excerpt

To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disorder (MPD) and its possible implication as a predisposing genetic factor, we analyzed 72 families including 174 patients (81 polycythemia vera [PV], 68 essential thrombocythemia [ET], 11 myelofibrosis with myeloid metaplasia [MMM], 12 chronic myeloid leukemia), 1 systemic mastocytosis, and 1 chronic myelomonocytic...

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PMID: 16537803
DOI: 10.1182/blood-2005-12-4852

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JAK2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.