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Article

B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient.

European journal of medical genetics - 1 Dec 2021

Bolund Anneli C S, Langdahl Bente, Laurberg Trine B, Hellfritzsch Michel B, Gjørup Hans, Møller-Madsen Bjarne, Nielsen Trine Ø, Farholt Stense, Gregersen Pernille A

Abstract excerpt

BACKGROUND: Proteoglycans (PGs) are complex macromolecules consisting of a core protein and glycosaminoglycan (GAG) side chains. PGs are important for the constitution and functioning of the connective tissue. The normal composition of the GAG side chains defines the nature of the PGs and a wide range of biological events. Deficiencies of specific enzymes involved in the linkage of GAGs to the core protein to...

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Identifiers

PMID: 34537402
DOI: 10.1016/j.ejmg.2021.104342

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