Article
Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I.
The Journal of clinical investigation - 1 Feb 1994
Reitsma P H, Ploos van Amstel H K, Bertina R M
Abstract excerpt
A panel of eight unrelated subjects with inherited type I protein S deficiency was screened for mutations in the PROS1 gene. In five subjects an abnormality was found but mutations were not detected in the remaining three subjects. Two subjects shared a G-->A transition at position +5 of the donor splice site consensus sequence of intron 10. Also in two subjects an A-->T transversion was detected in the stopcodon...
Topics
- Alleles
- Base Sequence
- Blood Platelets
- DNA Primers
- Exons
- Female
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Point Mutation
- Polymerase Chain Reaction