Inherited anti-thrombin deficiency in a Malay-Malaysian family: a missense mutation at nucleotide g.13267C>A aka anti-thrombin Budapest 5 (p.Pro439Thr) of the SERPINC 1 gene

• Main Authors: A.Talib, Norlelawati, Ismail, Rusmawati, Muhammad, Siti Aeshah @ Naznin, O., Nur Nadia, R., Rizqan Aizzani, Abd. Wahab, Noraziana
• Format: Article
• Language: English; English
• Published: Malaysian Medical Association 2014
• Subjects: RB Pathology
• Online Access: http://irep.iium.edu.my/36773/1/inherited-anti-thrombin-deficiency.pdf; http://irep.iium.edu.my/36773/4/scopus.pdf; http://irep.iium.edu.my/36773/; http://www.e-mjm.org/2014/v69n1/inherited-anti-thrombin-deficiency.pdf

OBJECTIVE: Inherited anti-thrombin deficiency is an autosomal dominant disorder which is associated with increased risk for venous thromboembolism (VTE). This condition is very rare in Malaysia and there has been no documented report. Thus, the aim of the present study is to investigate the type...