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Article

A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family.

Haematologica - 1 May 2008

Liu Kun, Kralovics Robert, Rudzki Zbigniew, Grabowska Barbara, Buser Andreas S, Olcaydu Damla, Gisslinger Heinz, Tiedt Ralph, Frank Patricia, Okoñ Krzysztof, van der Maas Anthonie P C, Skoda Radek C

Abstract excerpt

BACKGROUND: Hereditary thrombocythemia is an autosomal dominant disorder with clinical features resembling sporadic essential thrombocythemia. Germline mutations in families with hereditary thrombocythemia have been identified in the gene for thrombopoietin (TPHO) and its receptor, MPL. DESIGN AND METHODS: Here we characterized a THPO mutation in a hereditary thrombocythemia pedigree with 11 affected family...

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Source

Identifiers

PMID: 18367486
DOI: 10.3324/haematol.11801

Genes

THPO
MPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family.PMID 18367486Read ↗

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