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Article

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

Clinical and laboratory haematology - 1 Jun 1998

Culpan D, Goodeve A, Bowen D J, Standen G, Bidwell J

Abstract excerpt

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...

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Identifiers

PMID: 9681234
DOI: 10.1046/j.1365-2257.1998.00111.x

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