Five Novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis
β Scribed by Keiko Nagaizumi; Hiroshi Inaba; Kagehiro Amano; Midori Suzuki; Morio Arai; Katsuyuki Fukutake
- Publisher
- Carden Jennings Publishing
- Year
- 2003
- Tongue
- English
- Weight
- 417 KB
- Volume
- 78
- Category
- Article
- ISSN
- 0925-5710
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
A novel homozygous CCC----CTC (Pro 247----Leu) substitution was detected in the protein C genes of a patient, born to consanguineous parents, with inherited type 1 protein C deficiency and recurrent venous thrombosis. Since one of four heterozygous relatives was also clinically affected, the conditi
A novel heterozygous TGG-->TAG (Trp-29-->Term) substitution was detected in three members of a family with inherited type 1 protein C deficiency and recurrent venous thrombosis.
Haemophilia A is a X-linked bleeding disorder, caused by deficiency in the activity of coagulation factor VIII due to mutations in the corresponding gene. The most common defect in patients is an inversion of the factor VIII gene that accounts for nearly 45% of individuals with severe hemophilia A.