Novel ADAMTS13 mutations in a patient with congenital thrombotic thrombocytopenic purpura

Novel ADAMTS13 mutations in a patient with congenital thrombotic thrombocytopenic purpura

ABSTRACTCongenital thrombotic thrombocytopenic purpura (TTP) is a rare autosomal recessive genetic disorder caused by mutations in the ADAMTS13 gene. Approximately 200 mutations of the ADAMTS-13 gene have been identified, although only a few have been characterized through in vitro expression studie...

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Bibliographic Details
Main Authors: Zhitao Wang, Xinhui Zhang, Xueqin Lu, Peng Peng, Huiru Wang, Shanglong Feng, Li Zhou
Format: Article
Language:English
Published: Taylor & Francis Group 2023-12-01
Series:Hematology
Subjects:
Congenital thrombotic thrombocytopenic purpura
ADAMTS13 gene
nonsense mutation
non-synonymous mutation
protein conformation
Online Access:https://www.tandfonline.com/doi/10.1080/16078454.2023.2269513

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