The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura

The inherited deficiency of ADAMTS13 is usually associated with severe forms of thrombotic thrombocytopenic purpura. Among the mutations identified in the ADAMTS13 gene, none have been described on the TSP1-6 repeat domain. We investigated an Iranian family with a history of chronic recurrent thromb...

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Autors principals:	Roberta Palla, Silvia Lavoretano, Rossana Lombardi, Isabella Garagiola, Mehran Karimi, Abdolreza Afrasiabi, Mani Ramzi, Raimondo De Cristofaro, Flora Peyvandi
Format:	Artigo
Idioma:	Inglês
Publicat:	Ferrata Storti Foundation 2009-02-01
Col·lecció:	Haematologica
Accés en línia:	https://haematologica.org/article/view/5171
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