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Thromb Haemost 2007; 97(01): 159-160
DOI: 10.1160/TH06-05-0247
DOI: 10.1160/TH06-05-0247
Letters to the Editor
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’
Weitere Informationen
Publikationsverlauf
Received
07. Mai 2006
Accepted after resubmission
30. Oktober 2006
Publikationsdatum:
30. November 2017 (online)
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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.