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Article

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.

Blood - 12 Dec 2013

Stockley Jacqueline, Morgan Neil V, Bem Danai, Lowe Gillian C, Lordkipanidzé Marie, Dawood Ban, Simpson Michael A, Macfarlane Kirsty, Horner Kevin, Leo Vincenzo C, Talks Katherine, Motwani Jayashree, Wilde Jonathan T, Collins Peter W, Makris Michael, Watson Steve P, Daly Martina E

Abstract excerpt

We analyzed candidate platelet function disorder genes in 13 index cases with a history of excessive bleeding in association with a significant reduction in dense granule secretion and impaired aggregation to a panel of platelet agonists. Five of the index cases also had mild thrombocytopenia. Heterozygous alterations in FLI1 and RUNX1, encoding Friend leukemia integration 1 and RUNT-related transcription factor...

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Source

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Identifiers

PMID: 24100448
DOI: 10.1182/blood-2013-06-506873
PMCID: PMC3862284

Genes

FLI1
RUNX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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