Article
Autosomal dominant C1149R von Willebrand disease: phenotypic findings and their implications.
Haematologica - 1 May 2009
Pérez-Rodríguez Almudena, García-Rivero Aranzazu, Lourés Esther, López-Fernández Maria Fernanda, Rodríguez-Trillo Angela, Batlle Javier
Abstract excerpt
BACKGROUND: Mutation C1149R in the von Willebrand factor (VWF) gene has been thought to cause autosomal dominant severe type 1 von Willebrand disease (VWD). DESIGN AND METHODS: Eight patients from three unrelated families with this mutation were included in the present study who had distinct VWF abnormalities, not described in earlier studies. RESULTS: The patients showed notably low levels of VWF antigen...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.