Rapid genotypic diagnosis of type 2A von Willebrand's disease by heteroduplex analysis

Culpan, D., Goodeve, A., Bowen, Derrick John, Standen, G. and Bidwell, J. 1998. Rapid genotypic diagnosis of type 2A von Willebrand's disease by heteroduplex analysis. Clinical and Laboratory Haematology 20 (3) , pp. 177-178. 10.1046/j.1365-2257.1998.00111.x

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	Von Willebrand's disease; Mutations; Heteroduplex analysis
Publisher:	Wiley-Blackwell
ISSN:	0141-9854
Last Modified:	04 Jan 2023 02:12
URI:	https://orca.cardiff.ac.uk/id/eprint/57279

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