Novel mutations in ADAMTS13 CUB domains cause abnormal pre‐mRNA splicing and defective secretion of ADAMTS13

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 ye...

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Detalles Bibliográficos
Autores principales: Jiang, Yizhi, Huang, Dongping, Kondo, Yuji, Jiang, Miao, Ma, Zhenni, Zhou, Lu, Su, Jian, Bai, Xia, Ruan, Changgeng, Wang, Zhaoyue, Xia, Lijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Short Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171419/
https://www.ncbi.nlm.nih.gov/pubmed/32073234
http://dx.doi.org/10.1111/jcmm.15025

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