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Article

Relative impact of THPO mutation causing hereditary thrombocythemia.

Experimental hematology - 1 Jun 2024

Kimura Hiroyuki, Onozawa Masahiro, Matsukawa Toshihiro, Goto Hideki, Kondo Takeshi, Teshima Takanori

Abstract excerpt

Germline mutations of THPO were reported as causes of hereditary thrombocythemia. Six previously reported distinct sites of the mutation were clustered at the 5`-untranslated region or the exon 3 splicing donor site of the THPO gene. Each mutation was identified in an independent pedigree, and the differences between the mutations were not compared. We cloned six distinct THPO mutations (THPO c.-47delG, THPO...

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Source

Identifiers

PMID: 38548144
DOI: 10.1016/j.exphem.2024.104208

Genes

THPO

Variants

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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