Thromb Haemost 2007; 97(01): 159-160
DOI: 10.1160/TH06-05-0247
Letters to the Editor
Schattauer GmbH

The R2464C missense mutation in the von Willebrand factor gene causes a novel abnormality of multimer electrophoretic mobility and falls into the subgroup of type 2 von Willebrand disease’unclassified’

William A. Lester
1   University Hospital Birmingham
,
Andrea M. Guilliatt
2   Birmingham Childrens Hospital and
,
M.Said Enayat
2   Birmingham Childrens Hospital and
,
Peter Rose
3   Warwick Hospital, Birmingham, UK
,
Frank G. H. Hill
2   Birmingham Childrens Hospital and
› Author Affiliations
Further Information

Publication History

Received 07 May 2006

Accepted after resubmission 30 October 2006

Publication Date:
30 November 2017 (online)

 

 
  • References

  • 1 Enayat MS, Hill FGH. Analysis of the complexity of the multimeric structure of factor VIII-related antigen/von Willebrand protein using a modified electrophoretic technique. J Clin Path 1983; 36: 915-9.
  • 2 Enayat MS, Guilliatt AM, Surdhar GK. et al Aberrant dimerization of von Willebrand Factor as the result of mutations in the carboxyl-terminal region: Identification of three mutations in members of three different families with type 2A (phenotype IID) von Willebrand Disease. Blood 2001; 98: 674-80.
  • 3 Al-Buhairan AM, Nesbitt IM, Coughlan T. et al A novel R2464C candidate von Willebrand factor mutation in families with von Willebrand disease. J Thromb Haemost 2003; 1 (Suppl. 01) Abstr P1661
  • 4 Enayat MS, Guilliatt AM, Williams MD. et al A type 2 von Willebrand Disease family with an unusual phenotype and Arg 1315 Cys mutation: type 2A or type 2M?. Blood Coagul Fibrinolysis. 2001. 07 British Society for Haemostasis and Thrombosis and UKHCDO meeting, Bath
  • 5 Sadler JE. A Revised Classification of von Willebrand disease: For the Subcommittee on von Willebrand factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Hemostasis. Thromb Haemost 1994; 71: 520-5.