Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway

BACKGROUND: Congenital disorders of glycosylation (CDG) are rare diseases with impaired glycosylation and multiorgan disfunction, including hemostatic and inflammatory disorders. Factor XII (FXII), the first element of the contact phase, has an emerging role in hemostasia and inflammation. FXII defi...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: López-Gálvez, Raquel, de la Morena-Barrio, María Eugenia, López-Lera, Alberto, Pathak, Monika, Miñano, Antonia, Serrano, Mercedes, Borgel, Delphine, Roldán, Vanessa, Vicente, Vicente, Emsley, Jonas, Corral, Javier
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7547467/
https://ncbi.nlm.nih.gov/pubmed/33036649
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01564-9
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