Cited 2 times in
A Novel Silent Substitution (C8516T) in Exon 9 of the Human PROC Gene
DC Field | Value | Language |
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dc.contributor.author | 최종락 | - |
dc.date.accessioned | 2016-02-19T11:22:36Z | - |
dc.date.available | 2016-02-19T11:22:36Z | - |
dc.date.issued | 2001 | - |
dc.identifier.issn | 0513-5796 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/143009 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 364~366 | - |
dc.relation.isPartOf | YONSEI MEDICAL JOURNAL | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Exons* | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Middle Aged | - |
dc.subject.MESH | Mutation* | - |
dc.subject.MESH | Protein C/genetics* | - |
dc.subject.MESH | Thrombosis/genetics* | - |
dc.title | A Novel Silent Substitution (C8516T) in Exon 9 of the Human PROC Gene | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학) | - |
dc.contributor.googleauthor | Kyung Soon Song | - |
dc.contributor.googleauthor | Hyun Kyung Kim | - |
dc.contributor.googleauthor | Jae Woo Song | - |
dc.contributor.googleauthor | Jong Rak Choi | - |
dc.contributor.googleauthor | Young Sook Park | - |
dc.identifier.doi | 10.3349/ymj.2001.42.3.364 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A04182 | - |
dc.relation.journalcode | J02813 | - |
dc.identifier.eissn | 1976-2437 | - |
dc.identifier.pmid | 11456407 | - |
dc.subject.keyword | Protein C deficiency | - |
dc.subject.keyword | silent mutation | - |
dc.subject.keyword | PROC gene | - |
dc.subject.keyword | thrombosis | - |
dc.contributor.alternativeName | Choi, Jong Rak | - |
dc.contributor.affiliatedAuthor | Choi, Jong Rak | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 42 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 364 | - |
dc.citation.endPage | 366 | - |
dc.identifier.bibliographicCitation | YONSEI MEDICAL JOURNAL, Vol.42(3) : 364-366, 2001 | - |
dc.identifier.rimsid | 38697 | - |
dc.type.rims | ART | - |
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