A Series of 14 Polish Patients with Thrombotic Events and PC Deficiency-Novel c.401-1G>A PROC Gene Splice Site Mutation in a Patient with Aneurysms.
Anna WeronskaDaniel P PotaczekJulia OtoPilar MedinaAnetta UndasEwa WypasekPublished in: Genes (2022)
mutation was identified in a family with aneurysms, which might suggest yet unclear links of thrombophilia to vascular anomalies, including aneurysms at atypical locations in women. The present case series also supports data indicating that novel oral anticoagulants (NOACs) are effective in PC deficient patients.
Keyphrases
- oral anticoagulants
- end stage renal disease
- atrial fibrillation
- ejection fraction
- newly diagnosed
- peritoneal dialysis
- polycystic ovary syndrome
- prognostic factors
- case report
- gene expression
- type diabetes
- copy number
- metabolic syndrome
- machine learning
- patient reported outcomes
- insulin resistance
- transcription factor
- smoking cessation
- data analysis
- genome wide analysis