Three disintegrin-like domain mutations of ADAMTS13： functional deficiency and association with thrombosis

Objective To analyze the genotypic and phenotypic characteristics of four thrombotic patients carrying heterozygous mutations in the disintegrin-like domain of ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motifs 13), and to explore the association between ADAMTS13 deficie...

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Bibliographic Details

Published in:	Zhenduanxue lilun yu shijian
Main Author:	LIN Liya, WU Xi, MAO Yinqi, CHEN Guangming, WU Wenman, DAI Jing, WANG Xuefeng, DING Qiulan
Format:	Article
Language:	Chinese
Published:	Editorial Office of Journal of Diagnostics Concepts & Practice 2025-08-01
Subjects:	|adamts13|von willebrand factor|disintegrin-like domain|gene mutation|thrombosis
Online Access:	https://www.qk.sjtu.edu.cn/jdcp/fileup/1671-2870/PDF/1757372847743-1384954581.pdf