Thromb Haemost 2002; 87(01): 171-172
DOI: 10.1055/s-0037-1612963
Letters to the Editor
Schattauer GmbH

Rapid Intracellular Degradation of a Truncated Mutant Protein S (Q522X)

Tomio Yamazaki
1   Department of Laboratory Medicine, Division of Clinical Chemistry, Lund University, Malmö, Sweden
2   First Department of Internal Medicine, Nagoya University, School of Medicine, Nagoya, Japan
,
Hidehiko Saito
2   First Department of Internal Medicine, Nagoya University, School of Medicine, Nagoya, Japan
3   Nagoya National Hospital, Nagoya, Japan
,
Björn Dahlbäck
1   Department of Laboratory Medicine, Division of Clinical Chemistry, Lund University, Malmö, Sweden
› Author Affiliations
Further Information

Publication History

Publication Date:
14 December 2017 (online)

 

 
  • References

  • 1 Gandrille S, Borgel D, Sala N, Espinosa-Parrilla Y, Simmonds R, Rezende S, Lind B, Mannhalter C, Papinger I, Reitsma PH, Formstone C, Cooper DN, Saito H, Suzuki K, Bernardi F, Aiach M. Protein S deficiency: a database of mutations - summary of the first update. Thromb Haemost 2000; 84: 918. Full text and tables are available at http://www.ISTH.org
  • 2 Yamazaki T, Hamaguchi M, Katsumi A, Kagami K, Kojima T, Takamatsu J, Saito H. A quantitative protein S deficiency associated with a novel nonsense mutation and markedly reduced levels of mutated mRNA. Thromb Haemost 1995; 74: 590-5.
  • 3 Yamazaki T, Katsumi A, Kagami K, Okamoto Y, Sugiura I, Hamaguchi M, Kojima T, Takamatsu J, Saito H. Molecular basis of a hereditary type I protein S deficiency caused by a substitution of Cys for Arg474. Blood 1996; 87: 4643-50.
  • 4 Espinosa-Parrilla Y, Yamazaki T, Sala N, Dahlbäck B, Garcia de Frutos P. Protein S secretion differences of missense mutants account for phenotypic heterogeneity. Blood 2000; 95: 173-9.