COG5-CDG: expanding the clinical spectrum

BACKGROUND: The Conserved Oligomeric Golgi (COG) complex is involved in the retrograde trafficking of Golgi components, thereby affecting the localization of Golgi glycosyltransferases. Deficiency of a COG-subunit leads to defective protein glycosylation, and thus Congenital Disorders of Glycosylati...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Rymen, Daisy, Keldermans, Liesbeth, Race, Valérie, Régal, Luc, Deconinck, Nicolas, Dionisi-Vici, Carlo, Fung, Cheuk-wing, Sturiale, Luisa, Rosnoblet, Claire, Foulquier, François, Matthijs, Gert, Jaeken, Jaak
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2012
Gaiak:
Research
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3697985/
https://ncbi.nlm.nih.gov/pubmed/23228021
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-94
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