Ontology highlight
ABSTRACT:
SUBMITTER: Jiang Y
PROVIDER: S-EPMC7171419 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
Jiang Yizhi Y Huang Dongping D Kondo Yuji Y Jiang Miao M Ma Zhenni Z Zhou Lu L Su Jian J Bai Xia X Ruan Changgeng C Wang Zhaoyue Z Xia Lijun L
Journal of cellular and molecular medicine 20200219 7
Hereditary thrombotic thrombocytopenic purpura (TTP) is an autosomal recessive thrombosis disorder, caused by loss-of-function mutations in ADAMTS13. Mutations in the CUB domains of ADAMTS13 are rare, and the exact mechanisms through which these mutations result in the development of TTP have not yet been fully elucidated. In this study, we identified two novel mutations in the CUB domains in a TTP family with an acceptor splice-site mutation (c.3569-1, G>A, intron 25) and a point missense mutat ...[more]