Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next‐generation sequencing

ESSENTIALS: The differential diagnosis of acute thrombotic microangiopathy (TMA) is challenging. To the ADAMTS13 activity < or >10% was added a next‐generation sequencing (NGS) gene panel. The ADAMTS13 mutation p.Cys754Arg was frequent in hereditary thrombotic thrombocytopenic purpura. We iden...

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Dades bibliogràfiques
Publicat a:Res Pract Thromb Haemost
Autors principals: Fidalgo, Teresa, Martinho, Patrícia, Pinto, Catarina S., Oliveira, Ana C., Salvado, Ramon, Borràs, Nina, Coucelo, Margarida, Manco, Licínio, Maia, Tabita, Mendes, M. João, Del Orbe Barreto, Rafael, Corrales, Irene, Vidal, Francisco, Ribeiro, M. Letícia
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2017
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Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6058207/
https://ncbi.nlm.nih.gov/pubmed/30046676
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/rth2.12016
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