ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization - Bottega, Roberta; Marconi, Caterina; Faleschini, Michela; Baj, Gabriele; Cagioni, Claudia; Pecci, Alessandro; Pippucci, Tommaso; Ramenghi, Ugo; Pardini, Simonetta; Ngu, Loretta; Baronci, Carlo; Kunishima, Shinji; et al. (Blood, 2015)
Keywords: Actinin - genetics; Actinin - metabolism; Adolescent; Adult; Aged; Aged, 80 and over; Blood Platelets - metabolism; Blood Platelets - pathology; Brief Report; Case-Control Studies; Child; Child, Preschool; Female; Gene Expression; Genotype; Heterozygote; Humans; Male; Middle Aged; Mutation, Missense; Pedigree; Phenotype; Platelet Count; Platelets and Thrombopoiesis; Severity of Illness Index; Thrombocytopenia - genetics; Thrombocytopenia - metabolism; Thrombocytopenia - pathology; Thrombocytopenia - physiopathology; Thrombopoiesis - genetics; Thrombopoietin - blood