Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression

Małgorzata Rydzanicz, Małgorzata Wachowska, Erik C. Cook, Paweł Lisowski, Bożena Kuźniewska, Krystyna Szymańska, Sebastian Diecke, Alessandro Prigione, Krzysztof Szczałuba, Aleksandra Szybińska, Agnieszka Koppolu, Victor Murcia Pienkowski, Joanna Kosińska, Małgorzata Wiweger, Grażyna Kostrzewa, Małgorzata Brzozowska, Dorota Domańska-Pakieła, Elżbieta Jurkiewicz, Piotr Stawiński, Agnieszka GromadkaPiotr Zielenkiewicz, Urszula Demkow, Magdalena Dziembowska, Jacek Kuźnicki, Trevor P. Creamer, Rafał Płoski

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Biochemistry, Genetics and Molecular Biology