Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

Gaurav V. Harlalka, Anna Lehman, Barry Chioza, Emma L. Baple, Reza Maroofian, Harold Cross, Ajith Sreekantan-Nair, David A. Priestman, Saeed Al-Turki, Meriel E. McEntagart, Christos Proukakis, Louise Royle, Radoslaw P. Kozak, Laila Bastaki, Michael Patton, Karin Wagner, Roselyn Coblentz, Joy Price, Michelle Mezei, Kamilla Schlade-BartusiakFrances M. Platt, Matthew E. Hurles, Andrew H. Crosby

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