Article
Protein S Tokushima: abnormal molecule with a substitution of Glu for Lys-155 in the second epidermal growth factor-like domain of protein S.
Blood - 1 Feb 1994
Hayashi T, Nishioka J, Shigekiyo T, Saito S, Suzuki K
Abstract excerpt
A 29-year-old female patient with heterozygous congenital protein S deficiency suffering from thrombotic disease had normal levels of both total and free protein S antigen (70% and 65%, respectively), but low cofactor activity (31%) for activated protein C, indicating that she had a variant of pr...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Epidermal Growth Factor
- Exons
- Female
- Humans
- Introns
- Molecular Sequence Data
- Mutation
- Protein Conformation
- Protein S
- Protein S Deficiency
- Recombinant Proteins
- Thrombosis
