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Antithrombin III‐Amiens: A new family with an Arg47→ cys inherited variant of antithrombin iii with impaired heparin cofactor activity

 

作者: B. Roussel,   J. Dieval,   J. Delobel,   F. Fernandez‐Rachubinski,   B. Eng,   R. A. Rachubinski,   M. A. Blajchman,  

 

期刊: American Journal of Hematology  (WILEY Available online 1991)
卷期: Volume 36, issue 1  

页码: 25-29

 

ISSN:0361-8609

 

年代: 1991

 

DOI:10.1002/ajh.2830360106

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

关键词: antithrompin III;heparin;molecular pathology;polymerase chain reaction

 

数据来源: WILEY

 

摘要:

AbstractA family with an antithrombin III variant (AT‐III‐Amiens) demonstrating abnormal heparin cofactor activity is described. Amplification and direct sequencing of genomic DNA by the polymerase chain reaction procedure permitted the identification of an Arg47Cys mutation in exon 2 of the variant antithrombin III g

 

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