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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
Objectives: Protein C (PC) deficiency is an inherited thrombophilia with a prevalence of 0.5% in the general population and 3% in subjects with a first-time deep vein thrombosis (DVT). Here we report a series of 14 PC-deficient Polish patients with comprehensive clinical and molecular characteristic...
Autores principales: | Weronska, Anna, Potaczek, Daniel P., Oto, Julia, Medina, Pilar, Undas, Anetta, Wypasek, Ewa |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9141864/ https://www.ncbi.nlm.nih.gov/pubmed/35627118 http://dx.doi.org/10.3390/genes13050733 |
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