Article
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.
Haematologica - 1 Jun 2017
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
Abstract excerpt
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 of Marseille were recruited for a high-throughput gene sequencing study. This strategy led to the identification of...
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