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Characterization of two novel mutations of the antithrombin gene observed in Japanese thrombophilic patients

✍ Scribed by Masako Kurihara; Kumiko Watanabe; Sumiko Inoue; Yui Wada; Miyuki Ono; Machiko Wakiyama; Hiroko Iida; Sachiko Kinoshita; Naotaka Hamasaki


Book ID
116913083
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
245 KB
Volume
115
Category
Article
ISSN
0049-3848

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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