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Article

Familial essential thrombocythemia with spontaneous megakaryocyte colony formation and acquired JAK2 mutations.

Leukemia - 1 Aug 2008

Higgs J R, Sadek I, Neumann P E, Ing V W, Renault N K, Berman J N, Greer W L

Abstract excerpt

Essential thrombocythemia (ET) is a chronic myeloproliferative disorder, characterized by increased proliferation of megakaryocytes and elevated platelet count that usually occurs sporadically. We report a family with seven affected individuals in three generations, including one individual with a phenotype resembling polycythemia vera, a related disorder. Megakaryocyte (CFU-MK) colony formation occurred in the...

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Source

Identifiers

PMID: 18496561
DOI: 10.1038/leu.2008.115

Genes

MPL
THPO
TPO
JAK2

Variants

Provenance

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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