Article
Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study.
European journal of haematology - 1 Oct 2015
Fidalgo Teresa, Martinho Patrícia, Salvado Ramon, Manco Licínio, Oliveira Ana C, Pinto Catarina S, Gonçalves Elsa, Marques Dalila, Sevivas Teresa, Martins Natália, Ribeiro Maria Letícia
Abstract excerpt
INTRODUCTION: Inherited protein C (PC) deficiency is a well-known risk factor for venous thrombosis (VT). Plasma PC levels are reliable in moderate to severe deficiencies; however, in mildly deficient individuals, the levels may overlap with those considered normal. Genetic studies of PROC, which encodes PC, could help identify carriers; genome-wide association studies (GWAS) have shown that approximately 50% of...
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