A Novel Nonsense Mutation in the Antithrombin III Gene (Ser365 to Stop) Causing Deep and Mesenteric Venous Thromboses

Thromb Haemost 2001; 85(03): 570-571
DOI: 10.1055/s-0037-1615633

Letters to the Editor

Schattauer GmbH

Makoto Takenaga

¹Division of Cardiovascular Medicine, Miyazaki Cardiovascular Hospital, Miyazaki

,

Kenichi Horinouchi

²Department of Pediatrics, Fujimoto Hayasuzu Hospital, Miyakonojo, Miyazaki

,

Katsutoshi Shirieda

³Research Institute, Daigo Hospital, Mimata-cho, Kitamorokata-gun, Miyazaki, Japan

,

Terumi Fukudome

³Research Institute, Daigo Hospital, Mimata-cho, Kitamorokata-gun, Miyazaki, Japan

,

Toshiro Fujimoto

¹Division of Cardiovascular Medicine, Miyazaki Cardiovascular Hospital, Miyazaki

References
1 Perry DJ, Carrell RW. Molecular genetics of human antithrombin deficiency. Hum Mut 1996; 7: 7-22.
2 Hirsh J, Prins MH, Samama M. Therapeutic Agents and Their Practical Use in Thrombotic Disorders. In: Hemostasis and Thrombosis. Basic Principles and Clinical Practice. Colman RW, Hirsh J, Marder VJ, Salzman EW. eds. Philadelphia: J. B. Lippincott; 1994: 1543-61.
3 Olds RJ, Lane DA, Chowdhury V, De Stefano V, Leone G, Thein SL. Complete nucleotide sequence of the antithrombin gene: Evidence for homologous recombination causing thrombophilia. Biochemistry 1993; 32: 4216-24.
4 Lane DA, Bayston T, Olds RJ, Fitches AC, Cooper DN, Millar DS, Jochmans K, Perry DJ, Okajima K, Thein SL, Emmerich J. Antithrombin mutation database: 2nd (1997) update. Thromb Haemost 1997; 77: 197-211.
5 Lane DA, Kunz G, Olds RJ, Thein SL. Molecular genetics of antithrombin deficiency. Blood Rev 1996; 10: 59-74.