Article
Characterization of a large chromosomal deletion in the PROS1 gene of a patient with protein S deficiency type I using long PCR.
British journal of haematology - 1 Mar 1996
Holmes Z R, Bertina R M, Reitsma P H
Abstract excerpt
A long-PCR-based technique was developed to investigate a possible deletion in the protein S gene, PROS1, in a family with type I protein S (PS) deficiency (pedigree PS62). Long-PCR across introns produced an unexpected 2kb PCR product between exon VII and XII not seen in control individuals, in...
Topics
- Base Sequence
- Chromosome Deletion
- Chromosome Mapping
- Exons
- Humans
- Introns
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Protein S
- Protein S Deficiency
- Sequence Analysis, DNA