Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect
Titel:
Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect
Auteur:
Simons, Cas Griffin, Laurie B. Helman, Guy Golas, Gretchen Pizzino, Amy Bloom, Miriam Murphy, Jennifer L.P. Crawford, Joanna Evans, Sarah H. Topper, Scott Whitehead, Matthew T. Schreiber, John M. Chapman, Kimberly A. Tifft, Cyndi Lu, Katrina B. Gamper, Howard Shigematsu, Megumi Taft, Ryan J. Antonellis, Anthony Hou, Ya-Ming Vanderver, Adeline