Missense mutations in -1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome
Buysse, K., Riemersma, M., Powell, G., van Reeuwijk, J., Chitayat, D., Roscioli, T., Kamsteeg, E.-J., van den Elzen, C., van Beusekom, E., Blaser, S., Babul-Hirji, R., Halliday, W., Wright, G. J., SteVolume:
22
Language:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddt021
Date:
May, 2013
File:
PDF, 272 KB
english, 2013