Molecular basis of inherited antithrombin deficiency in Portuguese families: Identification of genetic alterations and screening for additional thrombotic risk factors
Author:
Publisher
Wiley
Subject
Hematology
Reference32 articles.
1. Antithrombin: molecular basis of deficiency;Bayston;Thromb Haemost,1997
2. The anticoagulant activation of antithrombin by heparin;Jin;Proc Natl Acad Sci U S A,1997
3. Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia;Olds;Biochemistry,1993
4. The incidence of dysfunctional antithrombin variants: four cases in 210 patients with thromboembolic disease;Harper;Br J Haematol,1991
5. Factor V Leiden (FV R506Q) in families with inherited antithrombin deficiency;van Boven;Thromb Haemost,1996
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1. Analysis of phenotype and gene mutation in three pedigrees with inherited antithrombin deficiency;Journal of Clinical Laboratory Analysis;2022-10-21
2. Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect;JCI Insight;2022-10-10
3. A SERPINC1 Mutation in a Patient with Cerebral Venous Thrombosis and Upper-Extremity Deep Vein Thrombosis;Annals of Child Neurology;2022-07-01
4. The genetics of venous thromboembolism: a systematic review of thrombophilia families;Journal of Thrombosis and Thrombolysis;2020-07-04
5. Genotype phenotype correlation in a pediatric population with antithrombin deficiency;European Journal of Pediatrics;2019-07-29
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