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    • ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization 

      Bottega, R.; Marconi, C.; Faleschini, M.; Baj, G.; Cagioni, C.; Pecci, A.; Pippucci, T.; Ramenghi, U.; Pardini, S.; Ngu, Loretta; Baronci, C.; Kunishima, S.; Balduini, C. L.; Seri, M.; Savoia, A.; Noris, P. (Blood, 2015-01-29)
      Inherited thrombocytopenias (ITs) are a heterogeneous group of syndromic and nonsyndromic diseases caused by mutations affecting different genes. Alterations of ACTN1, the gene encoding for alpha-actinin 1, have recently ...