Article
Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Oct 1993
Tsay W, Greengard J S, Montgomery R R, McPherson R A, Fucci J C, Koerper M A, Coughlin J, Griffin J H
Abstract excerpt
Symptomatic patients with Type 1 protein C deficiency and venous thrombosis were analysed for defects in this gene using polymerase chain reaction amplification and direct sequencing of all nine exons. Ten different heterozygous point mutations were detected in 19 patients from eleven American fa...
Topics
- Adult
- Base Sequence
- Child
- Codon
- DNA
- Gene Deletion
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Protein C
- Protein C Deficiency
- TATA Box
- Thrombophlebitis
- Transcription, Genetic