title: Bernard-Soulier syndrome due to GPIX W127X mutation in Japan is frequently misdiagnosed as idiopathic thrombocytopenic purpura.
authors.forename: Shinji
authors.initials: S
authors.lastname: Kunishima
authors.forename: Toshiki
authors.initials: T
authors.lastname: Yamada
authors.forename: Motohiro
authors.initials: M
authors.lastname: Hamaguchi
authors.forename: Hidehiko
authors.initials: H
authors.lastname: Saito
mesh_terms: D019943:Amino Acid Substitution; D001606:Bernard-Soulier Syndrome / Q000175:diagnosis* / Q000235:genetics; D005189:False Positive Reactions; D005260:Female; D006801:Humans; D007564:Japan; D008875:Middle Aged; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000235:genetics*; D017354:Point Mutation; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000175:diagnosis* / Q000235:genetics
chemical_list: D019038:Platelet Glycoprotein GPIb-IX Complex