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Novel point mutations leading to type 1 antithrombin deficiency and thrombosis

โœ Scribed by R. J. Olds; D. A. Lane; H. Ireland; G. Leone; V. De Stefano; M. L. Wiesel; J-P. Cazenave; S. L. Thein


Book ID
114712394
Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
802 KB
Volume
78
Category
Article
ISSN
0007-1048

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A novel and de novo spontaneous point mu
โœ Tarantino, Michael D.; Curtis, Sharon M.; Johnson, G. Stephan; Waye, John S.; Bl ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 108 KB ๐Ÿ‘ 2 views

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