Article
A new candidate missense mutation (Leu 1657 IIe) in an apparently asymptomatic type 2A (phenotype IIA) von Willebrand disease family.
Thrombosis and haemostasis - 1 Sept 2000
Enayat M S, Guilliatt A M, Surdhar G K, Theophilus B D, Hill F G
Abstract excerpt
Type 2A von Willebrand disease (VWD) is mostly an autosomal dominantly inherited bleeding disorder characterised by a qualitative defect of von Willebrand factor (VWF). Mutation screening was used to screen the whole of VWF gene followed by direct sequencing to detect the mutation in a father and son diagnosed with type 2A (phenotype IIA) von Willebrand disease. A C5219 to A transversion was detected predicting...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.