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Protein C 결핍증에서 유전자 점돌연변이(C6218T) 검색

Other Titles
 Identification of a Missense Mutation(C62l8T) in Hereditary Protein C Deficiency 
 송경순  ;  박영숙  ;  최종락  ;  김현경  ;  김원주 
 Korean Journal of Hematosis and Thrombosis (한국지혈혈전학회지), Vol.5(2) : 187-191, 1998 
Journal Title
 Korean Journal of Hematosis and Thrombosis (한국지혈혈전학회지) 
Issue Date
Protein C deficiency(PCD) is one of several hereditary abnormalities of inhibitor proteins that have been described in patients with a propensity for thromboembolic complications. Mutations causing PCD has mainly identified Western countries and in the present study, we report a case of herediatry PCD with a missense mutation(C6218T) in a year old male with multiple cerebral infarction and transient ischemic attack. The protein C actively (46%) and antigen(51%) levels were decreased to be consistent with hyterozygous type 1 PCD. To our knowledge, this is the second Korean case of hereditary PCD with the same genetic (C6218T), which may be hot sports for mutation in the protein C gene.
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Kim, Won Joo(김원주) ORCID logo https://orcid.org/0000-0002-5850-010X
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
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