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Identification and Functional Analysis of a Defect in the Human ALG9 Gene: Definition of Congenital Disorder of Glycosylation Type IL
Defects of lipid-linked oligosaccharide assembly lead to alterations of N-linked glycosylation known as “type I congenital disorders of glycosylation” (CDG). Dysfunctions along this stepwise assembly pathway are characterized by intracellular accumulation of intermediate lipid-linked oligosaccharide...
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| Hlavní autoři: | , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
The American Society of Human Genetics
2004
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1181998/ https://ncbi.nlm.nih.gov/pubmed/15148656 |
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