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

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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 )

Published:2022-08 Issue:8 Volume:10 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Hua Baolai¹^ORCID,Yan Xiaobo²,He Bin³,Shen Lianjun³,Poon Man‐Chiu⁴^ORCID

Affiliation:

1. Department of Hematology Beijing Shijitan Hospital, Capital Medical University Beijing China

2. Department of Hematology Yuebei People's Hospital affiliated to Medical College of Shantou University Shaoguan China

3. Department of Hematology Clinical Medical College, Yangzhou University Yangzhou China

4. Department of Medicine University of Calgary, Cumming School of Medicine, Foothills Medical Center, and Southern Alberta Rare Blood and Bleeding Disorders Comprehensive Care Program Calgary Canada

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.6269

Reference18 articles.

1. Advances in the diagnosis and treatment of Von Willebrand disease

2. Von Willebrand’s Disease

3. von Willebrand factor and coronary heart disease. Prospective study and meta-analysis

4. High von Willebrand Factor Levels Increase the Risk of Stroke

5. Reduced prevalence of arterial thrombosis in von Willebrand disease

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