Identification of 8 Rare Deleterious Variants in ADAMTS13 by Next-generation Sequencing in a Chinese Population with Thrombotic Thrombocytopenic Purpura-Reference-Cited by-同舟云学术

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Identification of 8 Rare Deleterious Variants in ADAMTS13 by Next-generation Sequencing in a Chinese Population with Thrombotic Thrombocytopenic Purpura

Published:2023-10 Issue:5 Volume:43 Page:1043-1050
ISSN:2096-5230
Container-title:Current Medical Science
language:en
Short-container-title:CURR MED SCI

Author:

Wang Xiao,Hao Xing-jie,Dai Cheng-guqiu,Ding Ya-jie,Xiong Lv,Deng Jun,Jiang Jing-Jing

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Biochemistry

Link

https://link.springer.com/content/pdf/10.1007/s11596-023-2793-7.pdf

Reference30 articles.

1. Sadler JE. Pathophysiology of thrombotic thrombocytopenic purpura. Blood, 2017,130(10):1181–1188

2. Kremer Hovinga JA, George JN. Hereditary Thrombotic Thrombocytopenic Purpura. N Engl J Med, 2019,381(17):1653–1662

3. Masias C, Cataland SR. The role of ADAMTS13 testing in the diagnosis and management of thrombotic microangiopathies and thrombosis. Blood, 2018,132(9):903–910

4. Lotta LA, Garagiola I, Palla R, et al. ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura. Hum Mutat, 2010,31(1):11–19

5. Kremer Hovinga JA, Heeb SR, Skowronska M, et al. Pathophysiology of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome. J Thromb Haemost, 2018,16(4):618–629

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