Article
Rapid detection of a protein C gene mutation present in the asymptomatic and not in the thrombosis-prone lineage.
British journal of haematology - 1 Jun 1992
Bernardi F, Patracchini P, Gemmati D, Boninsegna S, Guerra S, Legnani C, Ballerini G, Marchetti G
Abstract excerpt
The presence of mutations in the serine protease domain of protein C was investigated by temperature gradient gel electrophoresis of PCR products in five patients with protein C deficiency and thrombosis. Molecules with an altered melting behaviour were detected in one subject with a history of v...
Topics
- Adult
- Base Sequence
- Blotting, Southern
- Electrophoresis, Polyacrylamide Gel
- Exons
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Protein C
- Serine Endopeptidases
- Thrombosis