Autosomal dominant C1149R von Willebrand disease: phenotypic findings and their implications

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 abn...

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Hauptverfasser: Pérez-Rodríguez, Almudena, García-Rivero, Aranzazu, Lourés, Esther, López-Fernández, Maria Fernanda, Rodríguez-Trillo, Angela, Batlle, Javier
Format: Artigo
Sprache:Inglês
Veröffentlicht: Ferrata Storti Foundation 2009
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2675680/
https://ncbi.nlm.nih.gov/pubmed/19286880
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2008.003301
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