- Case Report
Novel Splice Site Mutation in the PROS1 Gene in a Polish Patient with Venous Thromboembolism: c.602-2delA, Splice Acceptor Site of Exon 7
- Magdalena Mrożek,
- Ewa Wypasek,
- Martine Alhenc-Gelas,
- Daniel P. Potaczek and
- Anetta Undas
We identified a novel splice site mutation of the PROS1 gene in a Polish family with protein S (PS) deficiency and explored the molecular pathogenesis of this previously undescribed variant. A novel mutation was detected in a 26-year-old woman with a...

