Article
Alterations of mRNA processing and stability as a pathogenic mechanism in von Willebrand factor quantitative deficiencies.
Journal of thrombosis and haemostasis : JTH - 1 Dec 2010
Castaman G, Platè M, Giacomelli S H, Rodeghiero F, Duga S
Abstract excerpt
INTRODUCTION: von Willebrand disease (VWD) is an inherited bleeding disorder due to a deficiency or abnormality of von Willebrand factor (VWF), associated with heterogeneous phenotypes. While VWD mutations acting at the protein level have been deeply investigated, fewer data are available on genetic defects affecting VWF mRNA. AIM: The aim of this study was to characterize the molecular mechanism underlying VWD...
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