Article
Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene.
Human genetics - 1 Mar 1992
Grundy C B, Schulman S, Krawczak M, Kobosko J, Kakkar V V, Cooper D N
Abstract excerpt
A CGA----TGA transition in the protein C gene, resulting in an Arg306----Term substitution, was detected in a Swedish kindred with thrombotic disease whose members exhibit plasma protein C activity/antigen levels consistent with type I protein C deficiency. Although an identical lesion has been reported previously in several Dutch families, RFLP typing indicated that the Dutch and Swedish mutations were unlikely...
Topics
- Amino Acid Sequence
- Arginine
- Base Sequence
- Exons
- Female
- Genetic Carrier Screening
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Pedigree