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A novel missense mutation in the antithrombin III gene (Ser349→Pro) causing recurrent venous thrombosis

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Summary

A novel TCC→CCC transition in the antithrombin III (ATIII) gene resulting in a Ser349→Pro substitution was detected in three members of a family with recurrent venous thrombosis and ATIII activity/antigen levels consistent with type 11 ATIII defciency.

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Authors and Affiliations

  1. Charter Molecular Genetics Laboratory, Thrombosis Research Institute, SW3 6LR, Manresa Road, London, UK

    Catherine B. Grundy, David S. Millar, Vijay V. Kakkar & David N. Cooper

  2. Haematology Department, Kingston General Hospital, HU3 1UR, Hull, UK

    Steven Holding

Authors
  1. Catherine B. Grundy
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  2. Steven Holding
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  3. David S. Millar
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  4. Vijay V. Kakkar
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  5. David N. Cooper
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Grundy, C.B., Holding, S., Millar, D.S. et al. A novel missense mutation in the antithrombin III gene (Ser349→Pro) causing recurrent venous thrombosis. Hum Genet 88, 707–708 (1992). https://doi.org/10.1007/BF02265306

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  • DOI: https://doi.org/10.1007/BF02265306

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