Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy
Titel:
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy
Auteur:
Mendes, Marisa I. Gutierrez Salazar, Mariana Guerrero, Kether Thiffault, Isabelle Salomons, Gajja S. Gauquelin, Laurence Tran, Luan T. Forget, Diane Gauthier, Marie-Soleil Waisfisz, Quinten Smith, Desiree E.C. Simons, Cas van der Knaap, Marjo S. Marquardt, Iris Lemes, Aida Mierzewska, Hanna Weschke, Bernhard Koehler, Wolfgang Coulombe, Benoit Wolf, Nicole I. Bernard, Geneviève