Article
PROS1 Cys475Tyr mutation associated with a type III protein S deficiency pattern.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Sept 2026
Mejias-Figueroa José A, Story Charlotte M, Streiff Michael B
Abstract excerpt
A 35-year-old woman presented with a deep vein thrombosis (DVT) and was diagnosed with protein S deficiency. She was treated with parenteral anticoagulation before switching to a direct oral anticoagulant. She presented to our practice 5 years later, where testing was repeated, demonstrating a type III deficiency pattern and a variant of uncertain significance in PROS1: c.1424G>A; p.Cys475Tyr. This cysteine...
Topics
- Humans
- Female
- Protein S Deficiency
- Adult
- Mutation
- Venous Thrombosis
- Blood Proteins
- Protein S