title: The homozygous p.C1024R- ADAMTS13 gene mutation links to a late-onset phenotype of Upshaw-Schulman syndrome in Japan.
authors.forename: Fumihiro
authors.initials: F
authors.lastname: Taguchi
authors.forename: Hideo
authors.initials: H
authors.lastname: Yagi
authors.forename: Masanori
authors.initials: M
authors.lastname: Matsumoto
authors.forename: Shingo
authors.initials: S
authors.lastname: Sadamura
authors.forename: Ayami
authors.initials: A
authors.lastname: Isonishi
authors.forename: Kenji
authors.initials: K
authors.lastname: Soejima
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Fujimura
mesh_terms: D051722:ADAM Proteins / Q000235:genetics* / Q000378:metabolism; D000071120:ADAMTS13 Protein; D017668:Age of Onset; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D006367:HeLa Cells; D006720:Homozygote; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011379:Prognosis; D011697:Purpura, Thrombotic Thrombocytopenic / Q000097:blood / Q000201:enzymology / Q000235:genetics* / Q000628:therapy; D018570:Risk Assessment; D012307:Risk Factors; D014162:Transfection
chemical_list: D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human