A Novel Splice Donor Site Mutation Leading to Inherited Type I Protein S Deficiency
Author:
Affiliation:
1. Departments of Hematology, Clinical Immunology and Infectious Diseases, Ehime University Graduate School of Medicine, Toon, Ehime, Japan
2. Division of Blood Transfusion and Cell Therapy, Ehime University Hospital, Toon, Ehime, Japan
Publisher
The Editorial Committee of Annals of Vascular Diseases
Link
https://www.jstage.jst.go.jp/article/avd/17/2/17_cr.23-00076/_pdf
Reference12 articles.
1. 1) Heeb MJ, Mesters RM, Tans G, et al. Binding of protein S to factor Va associated with inhibition of prothrombinase that is independent of activated protein C. J Biol Chem 1993; 268: 2872–7.
2. 2) Mahmoodi BK, Brouwer JL, Ten Kate MK, et al. A prospective cohort study on the absolute risks of venous thromboembolism and predictive value of screening asymptomatic relatives of patients with hereditary deficiencies of protein S, protein C or antithrombin. J Thromb Haemost 2010; 8: 1193–200.
3. 3) Martinelli I, Mannucci PM, De Stefano V, et al. Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia: study of 150 families. Blood 1998; 92: 2353–8.
4. 4) Gandrille S, Borgel D, Sala N, et al. Protein S deficiency: a database of mutations-summary of the first update. Thromb Haemost 2000; 84: 918.
5. 5) Yamanouchi J, Hato T, Tamura T, et al. Compound heterozygous mutations in the PROS1 gene responsible for quantitative and qualitative protein S deficiency. Int J Hematol 2009; 90: 537–9.
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