Article
A novel missense mutation in two families with congenital plasminogen deficiency: identification of an Ala675 to Thr675 substitution.
Thrombosis and haemostasis - 1 Jan 1996
Mima N, Azuma H, Shigekiyo T, Saito S
Abstract excerpt
We used a polymerase chain reaction (PCR) strategy and restriction fragment polymorphism analysis to evaluate all 19 exons of the plasminogen (PLG) gene in a Japanese patient with congenital PLG deficiency and her family members (family C). Sequence analysis following amplification of each exon a...
Topics
- Adolescent
- Adult
- Alanine
- Base Sequence
- Child
- Deoxyribonucleases, Type II Site-Specific
- Female
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Plasminogen
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Threonine