COG6‐CDG: Novel variants and novel malformation

BACKGROUND: Deficiency of Conserved Oligomeric Golgi (COG) subunits (COG1–8) is characterized by both N‐ and O‐protein glycosylation defects associated with destabilization and mislocalization of Golgi glycosylation machinery components (COG‐CDG). Patients with COG defects present with neurological...

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Detalles Bibliográficos
Autores principales: Cirnigliaro, Lara, Bianchi, Paolo, Sturiale, Luisa, Garozzo, Domenico, Mangili, Giovanna, Keldermans, Liesbeth, Rizzo, Renata, Matthijs, Gert, Fiumara, Agata, Jaeken, Jaak, Barone, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9306771/
https://www.ncbi.nlm.nih.gov/pubmed/35068072
http://dx.doi.org/10.1002/bdr2.1981

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9306771/
https://www.ncbi.nlm.nih.gov/pubmed/35068072
http://dx.doi.org/10.1002/bdr2.1981

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