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Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features

Congenital macrothrombocytopenia is a family of rare diseases, of which a significant fraction remains to be genetically characterized. To analyze cases of unexplained thrombocytopenia, 27 individuals from a patient cohort of the Bleeding and Thrombosis Exploration Center of the University Hospital...

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Detalles Bibliográficos
Autores principales:	Saultier, Paul, Vidal, Léa, Canault, Matthias, Bernot, Denis, Falaise, Céline, Pouymayou, Catherine, Bordet, Jean-Claude, Saut, Noémie, Rostan, Agathe, Baccini, Véronique, Peiretti, Franck, Favier, Marie, Lucca, Pauline, Deleuze, Jean-François, Olaso, Robert, Boland, Anne, Morange, Pierre Emmanuel, Gachet, Christian, Malergue, Fabrice, Fauré, Sixtine, Eckly, Anita, Trégouët, David-Alexandre, Poggi, Marjorie, Alessi, Marie-Christine
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Ferrata Storti Foundation 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451332/ https://www.ncbi.nlm.nih.gov/pubmed/28255014 http://dx.doi.org/10.3324/haematol.2016.153577

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