Article
A novel mutation in intron K of the PROS1 gene causes aberrant RNA splicing and is a common cause of protein S deficiency in a UK thrombophilia cohort.
Thrombosis and haemostasis - 1 Jun 1998
Beauchamp N J, Daly M E, Makris M, Preston F E, Peake I R
Abstract excerpt
In the course of investigating the molecular basis of protein S deficiency in 31 index cases with thrombophilia, we identified seven kindred where the underlying defect was a novel A to G transition 9 bp upstream of exon 12 in intron K of the PROS1 gene. In all but one case, the mutation caused t...
Topics
- Alleles
- Cohort Studies
- DNA Mutational Analysis
- Factor V
- Female
- Haplotypes
- Humans
- Introns
- Male
- Pedigree
- Point Mutation
- Polymerase Chain Reaction
- Protein S
- Protein S Deficiency
- RNA Splicing
- RNA, Messenger
- Thrombophilia
- Thrombophlebitis