title: Polymorphisms and mutations of ADAMTS13 in the Japanese population and estimation of the number of patients with Upshaw-Schulman syndrome.
authors.forename: K
authors.initials: K
authors.lastname: Kokame
authors.forename: Y
authors.initials: Y
authors.lastname: Kokubo
authors.forename: T
authors.initials: T
authors.lastname: Miyata
mesh_terms: D051722:ADAM Proteins / Q000097:blood / Q000235:genetics*; D000071120:ADAMTS13 Protein; D044466:Asian People / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D057809:HEK293 Cells; D006801:Humans; D007564:Japan / Q000453:epidemiology; D015810:Linkage Disequilibrium; D008297:Male; D009154:Mutation; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011697:Purpura, Thrombotic Thrombocytopenic / Q000208:ethnology / Q000235:genetics*; D014162:Transfection
chemical_list: D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human