RAPID GENOTYPIC DIAGNOSIS OF TYPE 2A VON-WILLEBRANDS-DISEASE BY HETERODUPLEX ANALYSIS

Authors
CULPAN D GOODEVE A BOWEN DJ STANDEN G BIDWELL J
Citation
D. Culpan et al., RAPID GENOTYPIC DIAGNOSIS OF TYPE 2A VON-WILLEBRANDS-DISEASE BY HETERODUPLEX ANALYSIS, Clinical and laboratory haematology, 20(3), 1998, pp. 177-178
Citations number
3
Categorie Soggetti
Hematology
Journal title
Clinical and laboratory haematology → ACNP
ISSN journal
01419854
Volume
20
Issue
3
Year of publication
1998
Pages
177 - 178
Database
ISI
SICI code
0141-9854(1998)20:3<177:RGDOT2>2.0.ZU;2-3
Abstract
We have previously reported a rapid heteroduplex-based technique which is able to identify at least 10 recurrent mutations associated with t ype 2A von Willebrand's disease, Thirteen patients with this disorder were genotyped by this method and a specific mutation was identified i n nine cases, This simple DNA based approach can provide useful inform ation to support data derived from phenotype tests in the initial asse ssment of such patients.