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Article

Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders.

Blood - 1 Feb 2008

Pietra Daniela, Li Sai, Brisci Angela, Passamonti Francesco, Rumi Elisa, Theocharides Alexandre, Ferrari Maurizio, Gisslinger Heinz, Kralovics Robert, Cremonesi Laura, Skoda Radek, Cazzola Mario

Abstract excerpt

We searched for JAK2 exon 12 mutations in patients with JAK2 (V617F)-negative myeloproliferative disorders. Seventeen patients with polycythemia vera (PV), including 15 sporadic cases and 2 familial cases, carried deletions or duplications of exon 12 in circulating granulocytes but not in T lymphocytes. Two of the 8 mutations detected were novel, and the most frequent ones were N542-E543del and E543-D544del. Most...

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Source

Identifiers

PMID: 17984312
DOI: 10.1182/blood-2007-07-101576

Genes

JAK2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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