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Three case reports of inherited antithrombin deficiency in China: double novel missense mutations, a nonsense mutation and a frameshift mutation.
MedLine Citation:
PMID:  22535529     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Antithrombin is a plasma protein critical to the regulation of coagulation. It plays a pivotal anticoagulant role by preventing the activation of procoagulant proteinases. Inherited and (or) acquired deficiency of AT is an established risk factor for venous thromboembolism. Sequencing analysis of SERPINC1 gene of three families revealed that Family I had double novel missense mutations (c.134G > A&c.342T > G), Family II had a nonsense mutation (c.770G > A) while Family III had a frameshift mutation (c.800-803del). In addition, all of them had a large number of carriers in their families what was very rare in China.
Authors:
Haoyu Deng; Wei Shen; Yi Gu; Xiong Ma; Jiwei Zhang; Lan Zhang
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-4-26
Journal Detail:
Title:  Journal of thrombosis and thrombolysis     Volume:  -     ISSN:  1573-742X     ISO Abbreviation:  -     Publication Date:  2012 Apr 
Date Detail:
Created Date:  2012-4-26     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9502018     Medline TA:  J Thromb Thrombolysis     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Department of Vascular Surgery, Shanghai JiaoTong University School of Medicine Renji Hospital, Shanghai, 200127, People's Republic of China.
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