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- W2908087592 abstract "Deep vein thrombosis (DVT) is the formation of a blood clot formed in the deep veins of the lower limbs. Known genetic factors of DVT include deficiencies of antithrombin (AT), protein C, protein S, factor V Leiden mutation, and prothrombin G20210A mutation. Here, a 5-generation Chinese family with inherited DVT was recruited for genetic analysis.The patient came to see a doctor because of leg swelling. A color Doppler ultrasound examination showed extensive thrombosis within the deep veins of her left leg. Computed tomography angiography showed a pulmonary embolism in her right lower pulmonary artery.Type II AT deficiency lead to inherited DVT.Whole-exome sequencing and cosegregation analysis were carried for the DVT family.An unreported heterozygous missense variation, c.281T>C, was identified within the SERPINC1 gene. This missense variation of SERPINC1 leads to type II AT deficiency.This result further enriched the variation spectrum of the SERPINC1 gene." @default.
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- W2908087592 date "2019-01-01" @default.
- W2908087592 modified "2023-09-23" @default.
- W2908087592 title "A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family" @default.
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- W2908087592 doi "https://doi.org/10.1097/md.0000000000013999" @default.
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