Article
A novel SERPINC1 c.119G>A (p.Cys40Tyr) mutation with variable clinical expression in an Indian family.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Dec 2024
Patil Kranti, Shah Asha, Saini Gurpreet, Tawde Shreyas, Kharat Shruti, Jivani Fiza, Kamble Aniket, Shetty Shrimati
Abstract excerpt
Hereditary antithrombin (AT) deficiency due to mutations in SERPINC1 is known to be the most severe form of thrombophilia. We report three members in a family with hereditary AT deficiency with a novel mutation in exon 2 of SERPINC1, that is c.119 G>A (p.Cys40Tyr). Two brothers presented with acute pulmonary thromboembolism (PTE) at 18 and 21 years of age, whereas their 58-year-old father did not have any...
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