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

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

Abstract 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. Bes...

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Bibliographic Details
Main Authors: Pengzhu Li, Jie Jiang, Qiong Xi, Zuocheng Yang
Format: Article
Language:English
Published: BMC 2021-10-01
Series:BMC Medical Genomics
Subjects:
Gene mutation
Thrombotic thrombocytopenic purpura
ADAMTS13
Upshaw–Schulman syndrome
Online Access:https://doi.org/10.1186/s12920-021-01099-3

Internet

https://doi.org/10.1186/s12920-021-01099-3

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