Genotype–phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo
Sign Up to like & getrecommendations! Published in 2020 at "British Journal of Haematology"
DOI: 10.1111/bjh.16963
Abstract: 2020. https://doi.org/10.3324/haematol.2020.247973 [Epub ahead of print]. 10. Plesner T, Krejcik J. Daratumumab for the treatment of multiple myeloma. Front Immunol. 2018;9:1228. 11. Lia G, Di Vito C, Cerrano M, Brunello L, Calcaterra F, Tapparo M,… read more here.
Keywords: genotype phenotype; phenotype gradient; single family; variants single ... See more keywords
Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays
Sign Up to like & getrecommendations! Published in 2022 at "Blood"
DOI: 10.1182/blood.2021014708
Abstract: Antithrombin (AT), encoded by the gene SERPINC1, is a serine protease inhibitor whose deficiency causes a severe form of dominantly inherited thrombophilia. de la Morena-Barrio et al describe 2 novel variants of AT with altered… read more here.
Keywords: severe thrombophilia; affecting glycosylation; two serpinc1; glycosylation ... See more keywords