Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays.
de la Morena-Barrio ME, Suchon P, Jacobsen EM, Iversen N, Miñano A, de la Morena-Barrio B, Bravo-Pérez C, Padilla J, Cifuentes R, Asenjo S, Deleuze JF, Trégouët DA, Lozano ML, Vicente V, Sandset PM, Morange PE, Corral J.
de la Morena-Barrio ME, et al. Among authors: sandset pm.
Blood. 2022 Jul 14;140(2):140-151. doi: 10.1182/blood.2021014708.
Blood. 2022.
PMID: 35486842
Free PMC article.