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

Glycosphingolipids are ubiquitous constituents of eukaryotic plasma membranes, and their sialylated derivatives, gangliosides, are the major class of glycoconjugates expressed by neurons. Deficiencies in their catabolic pathways give rise to a large and well-studied group of inherited disorders, the...

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Bibliografische gegevens
Hoofdauteurs: Harlalka, Gaurav V., Lehman, Anna, Chioza, Barry, Baple, Emma L., Maroofian, Reza, Cross, Harold, Sreekantan-Nair, Ajith, Priestman, David A., Al-Turki, Saeed, McEntagart, Meriel E., Proukakis, Christos, Royle, Louise, Kozak, Radoslaw P., Bastaki, Laila, Patton, Michael, Wagner, Karin, Coblentz, Roselyn, Price, Joy, Mezei, Michelle, Schlade-Bartusiak, Kamilla, Platt, Frances M., Hurles, Matthew E., Crosby, Andrew H.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2013
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Original Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3859217/
https://ncbi.nlm.nih.gov/pubmed/24103911
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awt270
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