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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.
Functional characterization of polymorphisms in the human TFPI gene.
Skretting G, Stavik B, Landvik NE, Myklebust CF, Iversen N, Zienolddiny S, Sandset PM. Skretting G, et al. Among authors: sandset pm. Biochem Biophys Res Commun. 2010 Jun 18;397(1):106-11. doi: 10.1016/j.bbrc.2010.05.078. Epub 2010 May 16. Biochem Biophys Res Commun. 2010. PMID: 20519147
359 results