A Novel Silent Substitution (C8516T) in Exon 9 of the Human PROC Gene
Yonsei Medical Journal
;
: 364-366, 2001.
Article
in English
| WPRIM
| ID: wpr-101699
ABSTRACT
Protein C 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 protein C deficiency is associated with an increased risk of thromboembolic disease. A multitude of families displaying protein C (PROC) gene defects have been reported, and a number of DNA sequence polymorphisms are known to occur in the PROC gene. We have identified a previously undescribed silent substitution (C8516T) by direct DNA sequencing in a Korean patient with thrombosis and protein C deficiency. In addition, a rare T allelic frequency (0.016) was determined in 123 patients with acquired or hereditary protein C deficiency.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Thrombosis
/
Protein C
/
Exons
/
Middle Aged
/
Mutation
Limits:
Humans
/
Male
Language:
English
Journal:
Yonsei Medical Journal
Year:
2001
Type:
Article
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