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Article

The activating splice mutation in intron 3 of the thrombopoietin gene is not found in patients with non-familial essential thrombocythaemia.

British journal of haematology - 1 Sept 1998

Harrison C N, Gale R E, Wiestner A C, Skoda R C, Linch D C

Abstract excerpt

Essential thrombocythaemia (ET) is a condition of unknown aetiology characterized by sustained thrombocytosis in the absence of a detectable systemic cause. Although usually considered a clonal disease affecting myeloid cells, recent data indicate that a significant proportion of patients have po...

Topics

Adolescent
Adult
Aged
Aged, 80 and over
Child
Enzyme-Linked Immunosorbent Assay
Female
Humans
Introns
Male
Middle Aged
Mutation
Thrombocythemia, Essential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Thrombopoietin

Source

Identifiers

PMID: 9753068

Genes

TPO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9753068-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Related research

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Click a neighbor to travelStep 1 · 11 closest

The activating splice mutation in intron 3 of the thrombopoietin gene is not found in patients with non-familial essential thrombocythaemia.PMID 9753068Read ↗

An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia.Semantic proximity Read ↗

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

A novel thrombopoietin (THPO) mutation altering mRNA splicing in a case of familial thrombocytosis.Semantic proximity Read ↗

Familial Essential Thrombocythemia Associated With One-Base Deletion in the 5′-Untranslated Region of theThrombopoietin GeneSemantic proximity Read ↗

Hereditary thrombocythemia due to splicing donor site mutation of THPO in a Japanese family.Semantic proximity Read ↗

Relative impact of THPO mutation causing hereditary thrombocythemia.Semantic proximity Read ↗

Genomic structure, chromosomal localization, and conserved alternative splice forms of thrombopoietinSemantic proximity Read ↗

Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin geneSemantic proximity Read ↗

Hereditary thrombocythemia caused by a thrombopoietin (THPO) gain-of-function mutation associated with multiple myeloma and congenital limb defects.Semantic proximity Read ↗

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutationSemantic proximity Read ↗

Molecular cloning and chromosomal localization of the human thrombopoietin geneSemantic proximity Read ↗

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