Publication équipe Friant et collaborateurs

Proteasome subunit PSMC variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

Ariane Kröll-Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär , Masanari Takamiya , Koichi Kawakami, Barbara A Zieba , Fouzia Studer , Valerie Pelletier, Carine Eyermann , Claude Speeg-Schatz , Vincent Laugel, Dan Lipsker , Florian Sandron , Steven McGinn , Anne Boland , Jean-François Deleuze, Lauriane Kuhn , Johana Chicher , Philippe Hammann , Sylvie Friant , Christelle Etard , Elke Krüger , Jean Muller, Uwe Strähle , Hélène Dollfus