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An ADAMTS13 mutation that causes hereditary thrombotic thrombocytopenic purpura: a case report and literature review

BACKGROUND: Mutations in the ADAMTS13 gene can lead to an ADAMTS13 enzyme deficiency, which is related to Upshaw–Schulman syndrome (USS). USS is a common type of thrombotic thrombocytopenic purpura (TTP). Here we present a very rare case of TTP caused by 2 mutations in the ADAMTS13 gene. Besides, we...

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Detalles Bibliográficos
Autores principales: Li, Pengzhu, Jiang, Jie, Xi, Qiong, Yang, Zuocheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8549186/
https://www.ncbi.nlm.nih.gov/pubmed/34702267
http://dx.doi.org/10.1186/s12920-021-01099-3