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Thromb Haemost 2009; 102(01): 175-177
DOI: 10.1160/TH09-02-0111
DOI: 10.1160/TH09-02-0111
Letters to the Editor
Time to seek further clarity in the molecular analysis of von Willebrand disease?
Further Information
Publication History
Received:
22 February 2009
Accepted after minor revision:
13 April 2009
Publication Date:
24 November 2017 (online)
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References
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- 2 Cumming A, Grundy P, Keeney S. et al. the UK Haemophilia Centre Doctors’ Organisation. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. Thromb Haemost 2006; 96: 630-641.
- 3 Goodeve A, Eikenboom J, Castaman G. et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood 2007; 109: 112-121.
- 4 James PD, Paterson AD, Notley C. et al. and Association of Hemophilia Clinic Directors of Canada. Genetic linkage and association analysis in type 1 von Willebrand disease: results from the Canadian type 1 VWD study. J Thromb Haemost 2006; 04: 783-792.
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- 6 Castaman G, Lethagen S, Federici AB. et al. Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD. Blood 2008; 111: 3531-3539.
- 7 Millar CM, Riddell AF, Brown SA. et al. Survival of von Willebrand factor released following DDAVP in a type 1 von Willebrand disease cohort: influence of glycosylation, proteolysis and gene mutations. Thromb Haemost 2008; 99: 916-924.
- 8 Favaloro EJ, Bonar R, Kershaw G. et al. (on behalf of the RCPA QAP in Haematology). Reducing errors in identification of von Willebrand disease: The experience of the Royal college of Pathologists of Australasia Quality Assurance Program. Semin Thromb Hemost 2006; 32: 505-513.
- 9 Sadler JE, Budde U, Eikenboom JC. et al. Working Party on von Willebrand Disease Classification. Up-date on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost 2006; 04: 2103-2114.
- 10 James P, Lillicrap D. The role of molecular genetics in diagnosing von Willebrand disease. Semin Thromb Hemost 2008; 34: 502-508.
- 11 Othman M, Favaloro EJ. Genetics of type 2B von Willebrand disease: “true 2B”, “tricky 2B”, or “not 2B”. What are the modifiers of the phenotype?. Semin Thromb Hemost 2008; 34: 520-531.
- 12 Casonato A, Sartorello F, Pontara E. et al. A novel von Willebrand factor mutation (I1372S) associated with type 2B-like von Willebrand disease: an elusive phenotype and a difficult diagnosis. Thromb Haemost 2007; 98: 1182-1187.
- 13 Website http://www.vwf.group.shef.ac.uk/index.html Last accessed 14th February, 2009.
- 14 Corrales I, Ramírez L, Altisent C. et al. Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene. Thromb Haemost 2009; 101: 570-576.