title: Inherited and de novo mutations of ADAMTS13 in a patient with Upshaw-Schulman syndrome.
authors.forename: K
authors.initials: K
authors.lastname: Kokame
authors.forename: Y
authors.initials: Y
authors.lastname: Aoyama
authors.forename: M
authors.initials: M
authors.lastname: Matsumoto
authors.forename: Y
authors.initials: Y
authors.lastname: Fujimura
authors.forename: T
authors.initials: T
authors.lastname: Miyata
mesh_terms: D051722:ADAM Proteins / Q000172:deficiency / Q000235:genetics*; D000071120:ADAMTS13 Protein; D005192:Family Health; D006470:Hemorrhage / Q000151:congenital*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D013577:Syndrome; D013927:Thrombosis / Q000151:congenital*
chemical_list: D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human