Molecular bases of antithrombin deficien
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VΓ©ronique Picard; Ulrike Nowak-GΓΆttl; Christine Biron-Andreani; Marc Fouassier;
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Article
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2006
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John Wiley and Sons
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English
β 72 KB
## 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