Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis
<p>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 disor...
| Main Authors: | , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
Oxford University Press
2013
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| Subjects: |