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...

Descripción completa

Detalles Bibliográficos
Autores principales: Weronska, Anna, Potaczek, Daniel P., Oto, Julia, Medina, Pilar, Undas, Anetta, Wypasek, Ewa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9141864/
https://www.ncbi.nlm.nih.gov/pubmed/35627118
http://dx.doi.org/10.3390/genes13050733

Ejemplares similares