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Article

ADAMTS13 activity and genetic mutations in Japan.

Hamostaseologie - 29 May 2013

Miyata T, Kokame K, Matsumoto M, Fujimura Y

Abstract excerpt

Thrombotic thrombocytopenic purpura (TTP), a life threatening disease, can be induced by congenital or acquired deficiency of plasma metalloprotease ADAMTS13. Since the publication of the first genetic analysis in patients with congenital ADAMTS13 deficiency in 2001, more than 100 genetic defects in the ADAMTS13 gene have been reported worldwide. Genetic analysis in patients with ADAMTS13 deficiency has greatly...

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Source

Identifiers

PMID: 23715102
DOI: 10.5482/HAMO-12-11-0017

Genes

ADAMTS13
VWF

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