Identificazione dei meccanismi responsabili del difetto della funzione piastrinica e della ridotta megacariocitopoiesi in una nuova variante di macrotrombocitopenia ereditaria di Glanzmann (D673-E712del)
- 2 Anni 2010/2012
- 124.300€ Totale Fondi
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Pubblicazioni Scientifiche
- EXPERT REVIEW OF HEMATOLOGY
Platelet function assays in diagnosis: an update
- HAEMATOLOGICA
Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia
- HAEMATOLOGICA
A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations
- INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
Laboratory diagnosis of clinically relevant platelet function disorders
- PLOS ONE
Outside-In Signalling Generated by a Constitutively Activated Integrin αIIbβ3 Impairs Proplatelet Formation in Human Megakaryocytes
- SEMINARS IN THROMBOSIS AND HEMOSTASIS
Inherited Platelet Function Disorders: Algorithms for Phenotypic and Genetic Investigation
