ADAMTS13 gene; a novel splicing site mutation in a case with thrombotic thrombocytopenic purpura

• Main Authors: Sepideh Zununi Vahed (Author), Alessandra Cremaschi (Author), Behzad Zaker (Author), Seyed Sadroddin Rasi Hashemi (Author), Mohammadreza Ardalan (Author)
• Format: Book
• Published: Society of Diabetic Nephropathy Prevention, 2021-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

A plasma protease, ADAMTS13, cleaves the von Willebrand factor (VWF) and its deficiency is associated with the pathogenesis of thrombotic thrombocytopenic purpura (TTP). According to the Human Gene Mutation Database (HGMD), about 150 mutations have been identified in the ADAMTS13 gene. A 23-year-old...