Article
Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Protein S Study Group.
Blood - 1 Dec 1996
Simmonds R E, Ireland H, Kunz G, Lane D A
Abstract excerpt
Protein S is a protein C-dependent and independent inhibitor of the coagulation cascade. Deficiency of protein S is an established risk factor for venous thromboembolism. We have used a strategy of specific amplification of the coding regions and intron/exon boundaries of the active protein S gen...
Topics
- Alleles
- Amino Acid Sequence
- Animals
- Cattle
- Chromosomes, Human, Pair 3
- Codon
- DNA Mutational Analysis
- Disease Susceptibility
- Female
- Humans
- Male
- Mice
- Pedigree