Identification of nine novel mutations in type I antithrombin deficiency by heteroduplex screening
β Scribed by V. Chowdhury; R. J. Olds; D. A. Lane; J. Conard; I. Pabinger; K. Ryan; K. A. Bauer; M. Bhavnani; U. Abildgaard; G. Finazzi; G. Castaman; P. M. Mannucci; S. L. Thein
- Book ID
- 114713183
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 649 KB
- Volume
- 84
- Category
- Article
- ISSN
- 0007-1048
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We describe a novel, de novo point mutation in one antithrombin (AT) allele resulting in type I AT deficiency and thrombophilia. Low plasma AT activity as well as low plasma AT antigen were documented in the propositus, but not in the parents, or in a male sibling. AT gene analysis by sequencing pol