Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2020 Oct;191(1):e32-e35.
doi: 10.1111/bjh.16963. Epub 2020 Jul 19.

Genotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo

C Bravo-Pérez  1 , M E de la Morena-Barrio  1 , A Palomo  2 , L Entrena  3 , B de la Morena-Barrio  1 , J Padilla  1 , A Miñano  1 , E Navarro  1 , R Cifuentes  1 , J Corral  1 , V Vicente  1
Affiliations
Free article
Case Reports

Genotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo

C Bravo-Pérez et al. Br J Haematol. 2020 Oct.
Free article
No abstract available

PubMed Disclaimer

References

    1. McCoy AJ, Pei XY, Skinner R, Abrahams JP, Carrell RW. Structure of beta-antithrombin and the effect of glycosylation on antithrombin’s heparin affinity and activity. J Mol Biol. 2003;326:823-33.
    1. Corral J, de la Morena-Barrio ME, Vicente V. The genetics of antithrombin. Thromb Res. 2018;169:23-9.
    1. Ishiguro K, Kojima T, Kadomatsu K, Nakayama Y, Takagi A, Suzuki M, et al. Complete antithrombin deficiency in mice results in embryonic lethality. J Clin Invest. 2000;106:873-8.
    1. Jochmans K, Lissens W, Yin T, Michiels JJ, van der Luit L, Peerlinck K, et al. Molecular basis for type 1 antithrombin deficiency: identification of two novel point mutations and evidence for a de novo splice site mutation. Blood. 1994;84:3742-8.
    1. de la Morena-Barrio ME, López-Gálvez R, Martínez-Martínez I, Asenjo S, Sevivas TS, López MF, et al. Defects of splicing in antithrombin deficiency. Res Pract Thromb Haemost. 2017;1:216-22.