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A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype
Congenital disorders of glycosylation (CDG) are a large group of recessive multisystem disorders caused by impaired protein or lipid glycosylation. The CDG-I subgroup is characterized by protein N-glycosylation defects originating in the endoplasmic reticulum. The genetic defect is known for 17 diff...
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| Główni autorzy: | , , , , , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Nature Publishing Group
2013
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3722673/ https://ncbi.nlm.nih.gov/pubmed/23249953 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.257 |
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