Article
The D173G mutation in ADAMTS-13 causes a severe form of congenital thrombotic thrombocytopenic purpura. A clinical, biochemical and in silico study.
Thrombosis and haemostasis - 1 Jan 2016
Lancellotti Stefano, Peyvandi Flora, Pagliari Maria Teresa, Cairo Andrea, Abdel-Azeim Safwat, Chermak Edrisse, Lazzareschi Ilaria, Mastrangelo Stefano, Cavallo Luigi, Oliva Romina, De Cristofaro Raimondo
Abstract excerpt
Congenital thrombotic thrombocytopenic purpura (TTP) is a rare form of thrombotic microangiopathy, inherited with autosomal recessive mode as a dysfunction or severe deficiency of ADAMTS-13 (A Disintegrin And Metalloprotease with ThromboSpondin 1 repeats Nr. 13), caused by mutations in the ADAMTS-13 gene. About 100 mutations of the ADAMTS-13 gene were identified so far, although only a few characterised by in...
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