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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Publicado en:J Inherit Metab Dis
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado: 2019
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Article
Acceso en liña: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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