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Article

Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis

20 Mar 2021

Abstract excerpt

Glycosylation is a fundamental post-translational modification of proteins that boosts their structural diversity providing subtle and specialized biological properties and functions. All those genetic diseases due to a defective glycan biosynthesis and attachment to the nascent glycoproteins fall within the wide area of congenital disorders of glycosylation (CDG), mostly causing multisystem involvement. In the...

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PMID: 33889819
DOI: 10.1016/j.isci.2021.102323

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