Article
Exome Sequencing Identifies Abnormalities in Glycosylation and ANKRD36C in Patients with Immune-Mediated Thrombotic Thrombocytopenic Purpura.
Thrombosis and haemostasis - 1 Apr 2021
Basu Malay Kumar, Massicano Felipe, Yu Lijia, Halkidis Konstantine, Pillai Vikram, Cao Wenjing, Zheng Liang, Zheng X Long
Abstract excerpt
BACKGROUND: Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a potentially fatal blood disorder, resulting from autoantibodies against ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13). However, the mechanism underlying anti-ADAMTS13 autoantibody formation is not known, nor it is known how genetic aberrations contribute to the pathogenesis of iTTP. METHODS:...
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