Article
Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity.
Human mutation - 1 Apr 2006
Peyvandi Flora, Lavoretano Silvia, Palla Roberta, Valsecchi Carla, Merati Giuliana, De Cristofaro Raimondo, Rossi Edoardo, Mannuccio Mannucci Pier
Abstract excerpt
The inherited deficiency of the von Willebrand factor-cleaving protease ADAMTS13 is associated with rare forms of thrombotic thrombocytopenic purpura (TTP). We investigated a woman with a family history of chronic recurrent TTP and undetectable plasma levels of ADAMTS13 activity. Genetic analysis revealed two missense mutations in the heterozygous state: p.Val88Met substitution in the metalloprotease domain and...
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