Novel CLCN1 mutations with unique clinical and electrophysiological consequences

Fen Fen Wu, Aisling Ryan, Joseph Devaney, Maike Warnstedt, Zeljka Korade-Mirnics, Barbara Poser, Maria Jose Escriva, Elena Pegoraro, Audrey S. Yee, Kevin J. Felice, Michael J. Giuliani, Richard F. Mayer, Tiziana Mongini, Laura Palmucci, Michael Marino, Reinhardt Rüdel, Eric P. Hoffman, Christoph Fahlke

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Medicine & Life Sciences