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Rapid genotypic diagnosis of type 2A von Willebrand's disease by heteroduplex analysis
D Culpan1, A Goodeve, D J Bowen
1Department of Pathology and Microbiology, University of Bristol, UK.
Clinical and Laboratory Haematology
|July 29, 1998
Abstract:
We have previously reported a rapid heteroduplex-based technique which is able to identify at least 10 recurrent mutations associated with type 2A von Willebrand's disease. Thirteen patients with this disorder were genotyped by this method and a specific mutation was identified in nine cases. This simple DNA based approach can provide useful information to support data derived from phenotype tests in the initial assessment of such patients.