Article
Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease.
Blood - 1 Apr 2001
Schneppenheim R, Budde U, Obser T, Brassard J, Mainusch K, Ruggeri Z M, Schneppenheim S, Schwaab R, Oldenburg J
Abstract excerpt
Dimerization defects of von Willebrand factor (vWF) protomers underlie von Willebrand disease (vWD) type 2A, subtype IID (vWD 2A/IID), and corresponding mutations have been identified at the 3' end of the vWF gene in exon 52. This study identified and expressed 2 additional mutations in this region, a homozygous defect in a patient with vWD type 3 (C2754W) and a heterozygous frameshift mutation (8566delC) in a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.