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Article

GFI1B mutation causes a bleeding disorder with abnormal platelet function.

Journal of thrombosis and haemostasis : JTH - 1 Nov 2013

Stevenson W S, Morel-Kopp M-C, Chen Q, Liang H P, Bromhead C J, Wright S, Turakulov R, Ng A P, Roberts A W, Bahlo M, Ward C M

Abstract excerpt

BACKGROUND: GFI1B is a transcription factor important for erythropoiesis and megakaryocyte development but previously unknown to be associated with human disease. METHODS: A family with a novel bleeding disorder was identified and characterized. Genetic linkage analysis and massively parallel sequencing were used to localize the mutation causing the disease phenotype on chromosome 9. Functional studies were then...

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PMID: 23927492
DOI: 10.1111/jth.12368

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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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