A novel p.Pro353His SERPINC1 mutation in the thrombin-binding region affecting stability of Antithrombin molecule in an extended Omani family
Author:
Affiliation:
1. Department of Haemostasis and Thrombosis; National Institute of Immunohaematology (ICMR); KEM Hospital; Mumbai India
2. Sultan Qaboos University Hospital; Muscat Oman
3. Surat Raktadan Kendra; Surat Gujarat India
Publisher
Wiley
Subject
Biochemistry, medical,Clinical Biochemistry,Hematology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ijlh.12808/fullpdf
Reference10 articles.
1. Congenital antithrombin III deficiency. Incidence and clinical features;Hirsh;Am J Med,1989
2. Inherited antithrombin deficiency: a review;Patnaik;Haemophilia,2008
3. Antithrombin Mutation Database https://www1.imperial.ac.uk/departmentofmedicine/divisions/experimentalmedicine/haematology/coag/antithrombin/
4. Antithrombin and its deficiency states;Lane;Blood Coagul Fibrinolysis,1992
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