Novel Splice Site Mutation in the <i>PROS1</i> Gene in a Polish Patient with Venous Thromboembolism: c.602-2delA, Splice Acceptor Site of Exon 7
We identified a novel splice site mutation of the <i>PROS1</i> 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 history of venous thromboembol...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2020-09-01
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| Series: | Medicina |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1010-660X/56/9/485 |