Article
Three novel missense mutations in unrelated Japanese patients with type I and type II protein S deficiency and venous thrombosis.
Thrombosis research - 15 Feb 1998
Fujimura H, Kambayashi J, Kato H, Sakon M, Kawasaki T, Ariyoshi H, Suehisa E, Monden M, Miyata T
Abstract excerpt
A molecular analysis of protein S deficiency in three unrelated Japanese patients was performed. An approximately 50% reduction in both functional and immunologic levels of protein S was detected in the plasmas from two unrelated patients, designated protein S Osaka 1 and protein S Osaka 2. An ap...
Topics
- Adult
- Aged
- Amino Acid Sequence
- Animals
- Exons
- Female
- Humans
- Japan
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Protein S
- Protein S Deficiency