Article
Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura.
Blood - 1 Oct 2004
Uchida Toshihiro, Wada Hideo, Mizutani Minoru, Iwashita Miho, Ishihara Hiroaki, Shibano Toshiro, Suzuki Misako, Matsubara Yumiko, Soejima Kenji, Matsumoto Masanori, Fujimura Yoshihiro, Ikeda Yasuo, Murata Mitsuru
Abstract excerpt
Congenital thrombotic thrombocytopenic purpura/hemolytic uremic syndrome (TTP/HUS) is associated with an inherited von Willebrand factor-cleaving protease (ADAMTS13 [a disintegrin and metalloprotease with thrombospondin type I domains 13]) deficiency. In this study, we identified novel mutations in the ADAMTS13 gene in a patient with TTP. The patient was a 51-year-old Japanese male who exhibited TTP symptoms at...
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