Article
A frequent mutation in the protein S gene results in cryptic splicing.
British journal of haematology - 1 Jun 1997
Mustafa S, Pabinger I, Mannhalter C
Abstract excerpt
Protein S is a vitamin K dependent coagulation inhibitor. One of several defects in the protein S gene (PROS1) associated with hereditary deficiency is a G --> A transition at position 5 of the splice donor in intron J. Although the mutation has been reported to cause allelic exclusion, we demonstrated low amounts of alternatively spliced ectopic PROS1 transcripts in carriers of this mutation. Sequencing of...
Topics
- Humans
- Introns
- Mutation
- Protein S
- Protein S Deficiency
- RNA Splicing