Rapid genotypic diagnosis of type 2A von Willebrand's disease by heteroduplex analysis.
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.
Department of Pathology and Microbiology, University of Bristol, UK.
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D
Culpan
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Goodeve
D J
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Bowen
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Standen
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Bidwell
D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics; D005838:Genotype; D006801:Humans; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D017354:Point Mutation; D014842:von Willebrand Diseases / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D014841:von Willebrand Factor / Q000235:genetics*
D014841:von Willebrand Factor; D004247:DNA