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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...

詳細記述

保存先:
書誌詳細
出版年:J Inherit Metab Dis
主要な著者: Ng, Bobby G., Lourenço, Charles Marques, Losfeld, Marie-Estelle, Buckingham, Kati J., Kircher, Martin, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Freeze, Hudson H.
フォーマット: Artigo
言語:Inglês
出版事項: 2019
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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