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Article

A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia.

British journal of haematology - 1 Jun 2002

Walker Logan C, Stevens Jane, Campbell Hamish, Corbett Rob, Spearing Ruth, Heaton David, Macdonald Donald H, Morris Christine M, Ganly Peter

Abstract excerpt

The RUNX1 (AML1, CBFA2) gene is a member of the runt transcription factor family, responsible for DNA binding and heterodimerization of other non-DNA binding transcription factors. RUNX1 plays an important part in regulating haematopoiesis and it is frequently disrupted by illegitimate somatic recombination in both acute myeloid and lymphoblastic leukaemia. Germline mutations of RUNX1 have also recently been...

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Source

Identifiers

PMID: 12060124
DOI: 10.1046/j.1365-2141.2002.03512.x

Genes

RUNX1

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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A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia.PMID 12060124Read ↗

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