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Hereditary Protein C Deficiency with Recurrent Thrombosis Identification of a Missense Mutation (C6218T)

DC FieldValueLanguage
dc.contributor.author최종락-
dc.date.accessioned2020-07-02T17:43:49Z-
dc.date.available2020-07-02T17:43:49Z-
dc.date.issued1998-
dc.identifier.issn1011-8934-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/177007-
dc.description.abstractProtein C is the central component of a major anti-thrombotic regulatory system and individuals with hereditary protein C deficiency (PCD) tend to have an increased risk of thromboembolism. During the last several years, mutations causing PCD have been identified in Western countries and in Japanese. In the present study, we report a case of hereditary PCD with a missense mutation (C6218T) in a 44 year old female with recurrent pulmonary thromboembolism. The protein C activity (35%) and antigen (58%) levels in this patient were decreased. Furthermore, we have identified the same molecular defect and PCD in other asymptomatic family members including proband's mother and two daughters and one son. To our knowledge, this is the first case of hereditary PCD with identified genetic defect in the Korean population, which may be one of hot spots for mutation in the protein C gene.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisher대한의학회(The Korean Academy of Medical Sciences)-
dc.relation.isPartOfJOURNAL OF KOREAN MEDICAL SCIENCE-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.subject.MESHAdult-
dc.subject.MESHCysteine/genetics-
dc.subject.MESHFemale-
dc.subject.MESHGenetic Diseases, Inborn-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHPedigree-
dc.subject.MESHPoint Mutation*-
dc.subject.MESHProtein C/genetics*-
dc.subject.MESHProtein C Deficiency*-
dc.subject.MESHRecurrence-
dc.subject.MESHThreonine/genetics-
dc.subject.MESHThrombosis/etiology-
dc.subject.MESHThrombosis/genetics*-
dc.titleHereditary Protein C Deficiency with Recurrent Thrombosis Identification of a Missense Mutation (C6218T)-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Laboratory Medicine (진단검사의학교실)-
dc.contributor.googleauthorKyung Soon Song-
dc.contributor.googleauthorYoung Sook Park-
dc.contributor.googleauthorChong Rak Choi-
dc.contributor.googleauthorHyun Kyung Kim-
dc.contributor.googleauthorQuehn Park-
dc.contributor.googleauthorHyun Seung Kim-
dc.identifier.doi10.3346/jkms.1998.13.2.186-
dc.contributor.localIdA04182-
dc.relation.journalcodeJ01517-
dc.identifier.eissn1598-6357-
dc.identifier.pmid9610620-
dc.contributor.alternativeNameChoi, Jong Rak-
dc.contributor.affiliatedAuthor최종락-
dc.citation.volume13-
dc.citation.number2-
dc.citation.startPage186-
dc.citation.endPage190-
dc.identifier.bibliographicCitationJOURNAL OF KOREAN MEDICAL SCIENCE, Vol.13(2) : 186-190, 1998-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers

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