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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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7547467/
https://www.ncbi.nlm.nih.gov/pubmed/33036649
http://dx.doi.org/10.1186/s13023-020-01564-9