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Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis
Harlalka, G. V., Lehman, A., Chioza, B., Baple, E. L., Maroofian, R., Cross, H., Sreekantan-Nair, A., Priestman, D. A., Al-Turki, S., McEntagart, M. E., Proukakis, C., Royle, L., Kozak, R. P., BastakiVolume:
136
Language:
english
Journal:
Brain
DOI:
10.1093/brain/awt270
Date:
December, 2013
File:
PDF, 642 KB
english, 2013