Article
Two new nonsense mutations in type Ia antithrombin III deficiency at Leu 140 and Arg 197.
Thrombosis and haemostasis - 5 Oct 1992
Tomonari A, Iwahana H, Yoshimoto K, Shigekiyo T, Saito S, Itakura M
Abstract excerpt
Using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing, the molecular basis of hereditary type Ia antithrombin III (AT III) deficiency was disclosed in two families. One mutation was a change from T to A in the codon of TTA for Leu 140 forming a stop codon of TAA, which was confirmed by mutated primer-mediated PCR-HindIII digestion. The application of this method...
Topics
- Antithrombin III
- Antithrombin III Deficiency
- Arginine
- Base Sequence
- Genes, Dominant
- Immunoelectrophoresis
- Leucine
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction