Article

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

2020-09-12

Abstract excerpt

<title>Abstract</title> <p>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 deficiency protects against thrombosis and the p.Thr309Lys variant is involved in hereditary...

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Literature Corpus work: f9fb4b03-36cc-53a1-a8f6-0cfe3421e0ad
DOI: 10.21203/rs.3.rs-45420/v2

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