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Congenital thrombotic thrombocytopenic purpura (cTTP) with two novel mutations

โœ Scribed by Timothy D. Prestidge; Erica Rurali; Louis Wadsworth; John K. Wu; Jane C. Moore; Elena Bresin


Book ID
112168161
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
106 KB
Volume
59
Category
Article
ISSN
1545-5009

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ADAMTS13 mutations and polymorphisms in
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Congenital thrombotic thrombocytopenic purpura (TTP) (also known as Upshaw-Schulman syndrome, USS) is a rare, life-threatening disease characterized by thrombocytopenia and microangiopathic hemolytic anemia, associated with the deficiency of the von Willebrand factor-cleaving protease (ADAMTS13) due