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Two Novel Gene Mutations in Type I Antithrombin Deficiency

✍ Scribed by Kenji Niiya; Toru Kiguchi; Hiromichi Dansako; Kingo Fujimura; Takahiro Fujimoto; Kenji Iijima; Mitsune Tanimoto; Mine Harada


Book ID
105675379
Publisher
Carden Jennings Publishing
Year
2001
Tongue
English
Weight
421 KB
Volume
74
Category
Article
ISSN
0925-5710

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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