title: Diagnostic biomarker for ACTN1 macrothrombocytopenia.
authors.affiliation: Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan.
authors.forename: Shinji
authors.initials: S
authors.lastname: Kunishima
authors.affiliation: Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan.
authors.forename: Katsumasa
authors.initials: K
authors.lastname: Kitamura
authors.affiliation: Department of Pediatrics, University of Fukui, Fukui, Japan.
authors.forename: Motoko
authors.initials: M
authors.lastname: Yasutomi
authors.affiliation: Department of Pediatrics, Sapporo Hokuyu Hospital, Sapporo, Japan.
authors.forename: Ryoji
authors.initials: R
authors.lastname: Kobayashi
mesh_terms: D000185:Actinin / Q000097:blood / Q000235:genetics; D015415:Biomarkers / Q000097:blood; D001792:Blood Platelets / Q000378:metabolism / Q000473:pathology; D005260:Female; D030342:Genetic Diseases, Inborn / Q000097:blood / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D020409:Molecular Motor Proteins / Q000097:blood / Q000235:genetics; D009154:Mutation; D018995:Myosin Heavy Chains / Q000097:blood / Q000235:genetics; D013921:Thrombocytopenia / Q000097:blood / Q000235:genetics / Q000473:pathology
chemical_list: C526905:ACTN1 protein, human; D015415:Biomarkers; C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D000185:Actinin; D018995:Myosin Heavy Chains