Article
Genetic characterization of protein C deficiency in Japanese subjects using a rapid and nonradioactive method for single-stand conformational polymorphism analysis and a model building.
Thrombosis and haemostasis - 1 Sept 1996
Miyata T, Sakata T, Zheng Y Z, Tsukamoto H, Umeyama H, Uchiyama S, Ikusaka M, Yoshioka A, Imanaka Y, Fujimura H, Kambayashi J, Kato H
Abstract excerpt
We studied the molecular basis of protein C deficiency in 28 Japanese families including 4 asymptomatic families. Two showed a decreased level of function with a normal antigen concentration consistent with type II protein C deficiency and the remaining 26 showed type I deficiency with decreases...
Topics
- Amino Acid Sequence
- Exons
- Female
- Humans
- Male
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Protein C
- Protein C Deficiency
- Protein Conformation