Article
UHG-based mutation screening in type 2B von Willebrand's disease: detection of a candidate mutation Ser547Phe.
Thrombosis and haemostasis - 1 Feb 1996
Wood N, Standen G R, Bowen D J, Cumming A, Lush C, Lee R, Bidwell J
Abstract excerpt
We have recently described a novel mutation screening technique for the diagnosis of type 2B von Willebrand's disease (vWD). Analysis involves the use of a synthetic universal heteroduplex generator (UHG). To test the validity of the technique, we have applied UHG screening to seven type 2B vWD patients of previously unknown genotype. Characteristic heteroduplex patterns for Arg543Trp and Val553Met mutations were...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.