New missense mutation p. Trp387Ser affecting the functionally important TrpXXTrp motif in the TSR1 repeat of ADAMTS13 metalloproteinase: Case report
Author:
Affiliation:
1. Laboratory of Genetic engineering National Medical Research Center for Hematology Ministry of Health Moscow Russia
2. Department of resuscitation and intensive care National Medical Research Center of Hematology Ministry of Health Moscow Russia
Publisher
Wiley
Subject
Physiology (medical),Pharmacology,Physiology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/1440-1681.13697
Reference23 articles.
1. Mechanism of von Willebrand factor scissile bond cleavage by a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13)
2. Consensus on the standardization of terminology in thrombotic thrombocytopenic purpura and related thrombotic microangiopathies
3. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura
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