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Mutations in the translocon‐associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation

4 Apr 2019

Abstract excerpt

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 a group of rare genetic disorders termed, congenital disorders of glycosylation (CDG). We report an individual who...

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PMID: 30945312
DOI: 10.1002/jimd.12091

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