title: Congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) caused by novel ADAMTS13 mutations.
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Centre, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Hyun-Young
authors.identifier: http://orcid.org/0000-0003-0553-7096
authors.initials: HY
authors.lastname: Kim
authors.affiliation: Samsung Biomedical Research Institute, Samsung Medical Centre, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Ki-O
authors.initials: KO
authors.lastname: Lee
authors.affiliation: Department of Paediatrics, Samsung Medical Centre, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Keon Hee
authors.initials: KH
authors.lastname: Yoo
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Centre, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Sun-Hee
authors.initials: SH
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, School of Medicine, CHA University, Seongnam, Korea. doh@cha.ac.kr.
authors.forename: Doyeun
authors.initials: D
authors.lastname: Oh
authors.affiliation: Department of Internal Medicine, School of Medicine, CHA University, Seongnam, Korea. heejinkim@skku.edu.
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
mesh_terms: D051722:ADAM Proteins / Q000235:genetics*; D000071120:ADAMTS13 Protein; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011697:Purpura, Thrombotic Thrombocytopenic / Q000201:enzymology / Q000235:genetics*
chemical_list: D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human
keywords: ADAMTS13; Korea; Upshaw-Schulman syndrome; congenital thrombotic thrombocytopenic purpura; mutation