Mutations in the D′D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF
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- 作者：Tara C. White-Adamsa ; 1 ; Christopher J. Nga ; 1 ; Paula M. Jacobib ; Sandra L. Haberichterb ; c ; Jorge A. Di Paolaa ; d ; jorge.dipaola@ucdenver.edu" class="auth_mail" title="E-mail the corresponding author
- 关键词：Von Willebrand factor ; Quantitative von Willebrand disease ; D&prime ; D3 domain
- 刊名：Thrombosis Research
- 出版年：2016
- 出版时间：September 2016
- 年：2016
- 卷：145
- 期：Complete
- 页码：112-118
- 全文大小：1792 K
文摘
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Previously unreported secretion/intracellular retention defects are noted in some of these mutations.
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Novel functional defects of VWF noted in a mutation not expected to have FVIII binding defects.
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Some mutations require further study as they do not have secretion/retention defects.