MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If
Deficiencies in the pathway of N-glycan biosynthesis lead to severe multisystem diseases, known as congenital disorders of glycosylation (CDG). The clinical appearance of CDG is variable, and different types can be distinguished according to the gene that is altered. In this report, we describe the...
Kaydedildi:
| Yayımlandı: | J Clin Invest |
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| Asıl Yazarlar: | , , , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
American Society for Clinical Investigation
2001
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC200989/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11733564/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI13419 |
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