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

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

Abstract 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. F...

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Bibliographic Details
Main Authors: Raquel López-Gálvez, María Eugenia de la Morena-Barrio, Alberto López-Lera, Monika Pathak, Antonia Miñano, Mercedes Serrano, Delphine Borgel, Vanessa Roldán, Vicente Vicente, Jonas Emsley, Javier Corral
Format: Article
Language:English
Published: BMC 2020-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Factor XII
Congenital disorders of glycosylation
N-glycosylation
Angioedema
Hemostasis
Online Access:http://link.springer.com/article/10.1186/s13023-020-01564-9

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