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Protein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism
Hereditary protein C (PC) deficiency is an autosomal dominant disorder associated with a high risk of venous thromboembolism (VTE). Here we report a case of inherited PC deficiency associated with recurrent deep venous thrombosis. Two mutations were revealed in PROC (c.1152C>G, p.N384K and c.1207...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765183/ https://www.ncbi.nlm.nih.gov/pubmed/29349439 http://dx.doi.org/10.1016/j.jvscit.2017.11.002 |