Protein S gene mutation c.946C > T (p.R316C) contributed to ischemic stroke in a man with von Willebrand disease type 3 caused by two novel VWF gene mutations, c.2328delT (p.A778Lfs* 23) and c.6521G > T (p.C2174F)

Protein S gene mutation c.946C > T (p.R316C) contributed to ischemic stroke in a man with von Willebrand disease type 3 caused by two novel VWF gene mutations, c.2328delT (p.A778Lfs* 23) and c.6521G > T (p.C2174F)

Abstract The risk factors for a family with VWD presenting with an ischemic stroke (IS) were explored. FVIII activity (FVIII:C), VWF antigen (VWF:Ag), and protein S activity were measured. Next generation sequencing (NGS) was performed targeting F8, F9, VWF, PROC, and PROS1. Sanger sequencing valida...

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Bibliographic Details
Main Authors: Baolai Hua, Xiaobo Yan, Bin He, Lianjun Shen, Man‐Chiu Poon
Format: Article
Language:English
Published: Wiley 2022-08-01
Series:Clinical Case Reports
Subjects:
gene mutation
ischemic stroke (IS)
protein S (PS)
von willebrand disease (VWD)
Online Access:https://doi.org/10.1002/ccr3.6269

Internet

https://doi.org/10.1002/ccr3.6269

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