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

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. Heter...

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Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: American Society of Hematology 2013
Matèries:
Platelets and Thrombopoiesis
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3862284/
https://ncbi.nlm.nih.gov/pubmed/24100448
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2013-06-506873
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