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Assessment for antithrombin deficiency in the real world

✍ Scribed by E. J. Favaloro


Book ID
111415318
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
80 KB
Volume
33
Category
Article
ISSN
1751-5521

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Molecular bases of antithrombin deficien
✍ VΓ©ronique Picard; Ulrike Nowak-GΓΆttl; Christine Biron-Andreani; Marc Fouassier; πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 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