Article
Six missense mutations associated with type I and type II protein C deficiency and implications obtained from molecular modelling.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Oct 1994
Zheng Y Z, Sakata T, Matsusue T, Umeyama H, Kato H, Miyata T
Abstract excerpt
The molecular basis of protein C deficiency was studied in three type I and three type II heterozygotes. Three probands showed thrombotic complications. All the exons and intron/exon junctions of the protein C gene were studied using a strategy combining by the polymerase chain reaction (PCR) amp...
Topics
- Adult
- Aged
- Amino Acid Sequence
- Base Sequence
- Codon
- DNA Restriction Enzymes
- Exons
- Female
- Humans
- Introns
- Male
- Middle Aged
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational