
<ArticleTitle>A novel silent substitution (C8516T) in exon 9 of the human <prot>PROC</prot> gene.</ArticleTitle>
<AbstractText><prot>Protein C</prot> is a vitamin K dependent serine protease zymogen, which has a regulatory influence over the coagulation cascade via the inhibition of factors Va and VIIIa. Hereditary <prot>protein C</prot> deficiency is associated with an increased risk of thromboembolic disease. A multitude of families displaying <prot>protein C</prot> (<prot>PROC</prot>) gene defects have been reported, and a number of DNA sequence polymorphisms are known to occur in the <prot>PROC</prot> gene. We have identified a previously undescribed silent substitution (C8516T) by direct DNA sequencing in a Korean patient with thrombosis and <prot>protein C</prot> deficiency. In addition, a rare T allelic frequency (0.016) was determined in 123 patients with acquired or hereditary <prot>protein C</prot> deficiency.</AbstractText>
