Identification and Functional Analysis of a Novel von Willebrand Factor Mutation in a Family with Type 2A von Willebrand Disease

von Willebrand factor (VWF) is essential for normal hemostasis. VWF gene mutations cause the hemorrhagic von Willebrand disease (VWD). In this study, a 9-year-old boy was diagnosed as type 2A VWD, based on a history of abnormal bleeding, low plasma VWF antigen and activity, low plasma factor VIII ac...

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Detalles Bibliográficos
Autores principales: Dong, Jing, Zhao, Xiaojuan, Shi, Sensen, Ma, Zhenni, Liu, Meng, Wu, Qingyu, Ruan, Changgeng, Dong, Ningzheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314005/
https://www.ncbi.nlm.nih.gov/pubmed/22479377
http://dx.doi.org/10.1371/journal.pone.0033263

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314005/
https://www.ncbi.nlm.nih.gov/pubmed/22479377
http://dx.doi.org/10.1371/journal.pone.0033263

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