Diagnostic biomarker for ACTN1 macrothrombocytopenia - Kunishima, Shinji; Kitamura, Katsumasa; Yasutomi, Motoko; Kobayashi, Ryoji (Blood, 2015)
Keywords: Actinin - blood; Actinin - genetics; Biomarkers - blood; Blood Platelets - metabolism; Blood Platelets - pathology; Female; Genetic Diseases, Inborn - blood; Genetic Diseases, Inborn - genetics; Genetic Diseases, Inborn - pathology; Humans; Male; Molecular Motor Proteins - blood; Molecular Motor Proteins - genetics; Mutation; Myosin Heavy Chains - blood; Myosin Heavy Chains - genetics; Thrombocytopenia - blood; Thrombocytopenia - genetics; Thrombocytopenia - pathology