Publication
A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
Cas Simons, Nicole I. Wolf, Nathan McNeil, Ljubica Caldovic, Joseph M. Devaney, Asako Takanohashi, Joanna Crawford, Kelin Ru, Sean M. Grimmond, David Miller, Davide Tonduti, Johanna L. Schmidt, Robert S. Chudnow, Rudy van Coster, Lieven Lagae, Jill Kisler, Jürgen Sperner, Marjo S. van der Knaap, Raphael Schiffmann, Ryan J. Taft, Adeline Vanderver
The American Journal of Human Genetics, May 2013, Elsevier
DOI: 10.1016/j.ajhg.2013.03.018