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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書誌詳細
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: American Society of Hematology 2013
主題:
Platelets and Thrombopoiesis
オンライン･アクセス: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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