Upshaw-Schulman Syndrome: Novel homozygous missense mutation

Author:

Sarmiento HectorORCID,Pomares Itxiar Molina,Manresa Pablo Manresa,Castaño Francisco López,Hernandez Luis M.,Marco Pascual

Publisher

Elsevier BV

Subject

Hematology

Reference18 articles.

1. Current status in diagnosis and treatment of hereditary thrombotic thrombocytopenic purpura;Hanby;Hereditary Genet.,2014

2. Molecular characterization of ADAMTS13 gene mutations in Japanese patient with Upshawn-Schulman syndrome;Matsumoto;Blood,2004

3. Adamts13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura;Lotta;Hum. Mutat.,2010

4. Characterization of coding synonymouns and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches;Edwards;PLoS ONE,2012

5. Management of thrombotic thrombocytopenic purpura: current perspectives;Blombery;J. Blood Med.,2014

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