Article
Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation.
Arteriosclerosis, thrombosis, and vascular biology - 1 Jun 2017
Berrou Eliane, Adam Frédéric, Lebret Marilyne, Planche Virginie, Fergelot Patricia, Issertial Odile, Coupry Isabelle, Bordet Jean-Claude, Nurden Paquita, Bonneau Dominique, Colin Estelle, Goizet Cyril, Rosa Jean-Philippe, Bryckaert Marijke
Abstract excerpt
OBJECTIVE: Dominant mutations of the X-linked filamin A (FLNA) gene are responsible for filaminopathies A, which are rare disorders including brain periventricular nodular heterotopia, congenital intestinal pseudo-obstruction, cardiac valves or skeleton malformations, and often macrothrombocytopenia. APPROACH AND RESULTS: We studied a male patient with periventricular nodular heterotopia and congenital intestinal...
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