ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome
Willer, Tobias, Lee, Hane, Lommel, Mark, Yoshida-Moriguchi, Takako, de Bernabe, Daniel Beltran Valero, Venzke, David, Cirak, Sebahattin, Schachter, Harry, Vajsar, Jiri, Voit, Thomas, Muntoni, FrancescVolume:
44
Language:
english
Journal:
Nature Genetics
DOI:
10.1038/ng.2252
Date:
April, 2012
File:
PDF, 1.31 MB
english, 2012