PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive CharcotMarieTooth disease

Azzedine, Hamid; Zavadakova, Petra; Plante-Bordeneuve, Violaine; Pato, Maria Vaz; Pinto, Nuno; Bartesaghi, Luca; Zenker, Jennifer; Poirot, Olivier; Bernard-Marissal, Nathalie; Gouttenoire, Estelle Arnaud; Cartoni, Romain; Title, Alexandra; Venturini, Giulia; Medard, Jean-Jacques; Makowski, Edward; Schoels, Ludger; Claeys, Kristl G.; Stendel, Claudia; Roos, Andreas; Weis, Joachim; Dubourg, Odile; Loureiro, Jose Leal; Stevanin, Giovanni; Said, Gerard; Amato, Anthony; Baraban, Jay; LeGuern, Eric; Senderek, Jan; Rivolta, Carlo; Chrast, Roman

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive CharcotMarieTooth disease

Autor(en):

Azzedine, Hamid; Zavadakova, Petra; Plante-Bordeneuve, Violaine; Pato, Maria Vaz; Pinto, Nuno; Bartesaghi, Luca; Zenker, Jennifer; Poirot, Olivier; Bernard-Marissal, Nathalie; Gouttenoire, Estelle Arnaud; Cartoni, Romain; Title, Alexandra; Venturini, Giulia; Medard, Jean-Jacques; Makowski, Edward; Schoels, Ludger; Claeys, Kristl G.; Stendel, Claudia; Roos, Andreas; Weis, Joachim; Dubourg, Odile; Loureiro, Jose Leal; Stevanin, Giovanni; Said, Gerard; Amato, Anthony; Baraban, Jay; LeGuern, Eric; Senderek, Jan; Rivolta, Carlo; Chrast, Roman

Tübinger Autor(en):

Schöls, Ludger

Erschienen in:

Human Molecular Genetics (2013), Bd. 22, H. 20, S. 4224-4232

Verlagsangabe:

Oxford Univ Press

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1093/hmg/ddt274

ISSN:

0964-6906