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Mutations in the translocon associated protein complex subunit SSR3 cause a novel Congenital Disorder of Glycosylation.
The translocon associated protein (TRAP) complex facilitates the translocation of proteins across the endoplasmic reticulum membrane and associates with the oligosaccharyl transferase (OST) complex to maintain proper glycosylation of nascent polypeptides. Pathogenic variants in either complex cause...
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| 出版年: | J Inherit Metab Dis |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2019
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6739144/ https://ncbi.nlm.nih.gov/pubmed/30945312 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12091 |
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