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THE MOLECULAR GENETICS OF ANTITHROMBIN DEFICIENCY

✍ Scribed by Robin J. Olid; David A.Lane; Swee Lay Thein


Book ID
114713704
Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
666 KB
Volume
87
Category
Article
ISSN
0007-1048

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## Antithrombin (AT) is a major physiological inhibitor of hemostasis. We report 22 novel antithrombin gene (SERPINC1) mutations associated with antithrombin deficiency in 17 French and five German families. They were all present at the heterozygous state. Nine missense mutations accounted for typ