Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

Autor: 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., Stemple, D. L., Lin, Y.-Y., Lefeber, D. J., van Bokhoven, H.
Jazyk: angličtina
Rok vydání: 2013
Zdroj: Human Molecular Genetics; Vol 22
ISSN: 1460-2083
DOI: 10.1093/hmg/ddt021
Databáze: OpenAIRE