TY - GEN AU - Berrou,Eliane AU - Adam,Frédéric AU - Lebret,Marilyne AU - Planche,Virginie AU - Fergelot,Patricia AU - Issertial,Odile AU - Coupry,Isabelle AU - Bordet,Jean-Claude AU - Nurden,Paquita AU - Bonneau,Dominique AU - Colin,Estelle AU - Goizet,Cyril AU - Rosa,Jean-Philippe AU - Bryckaert,Marijke TI - Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin α SN - 1524-4636 PY - 2017///0620 KW - Adult KW - Blood Platelets KW - metabolism KW - Cell Line KW - DNA Mutational Analysis KW - Filamins KW - blood KW - Genetic Predisposition to Disease KW - Heredity KW - Humans KW - Integrin alpha2 KW - Integrin beta3 KW - Intestinal Pseudo-Obstruction KW - Male KW - Mutation KW - Periventricular Nodular Heterotopia KW - Phenotype KW - Platelet Activation KW - Platelet Function Tests KW - Platelet Glycoprotein GPIIb-IIIa Complex KW - Protein Binding KW - Shelterin Complex KW - Signal Transduction KW - Talin KW - Telomere-Binding Proteins KW - Transfection KW - von Willebrand Factor N1 - Publication Type: Case Reports; Journal Article UR - https://doi.org/10.1161/ATVBAHA.117.309337 ER -