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

Authors
 Kyung Soon Song  ;  Young Sook Park  ;  Chong Rak Choi  ;  Hyun Kyung Kim  ;  Quehn Park  ;  Hyun Seung Kim 
Citation
 JOURNAL OF KOREAN MEDICAL SCIENCE, Vol.13(2) : 186-190, 1998 
Journal Title
 JOURNAL OF KOREAN MEDICAL SCIENCE 
ISSN
 1011-8934 
Issue Date
1998
MeSH
Adult ; Cysteine/genetics ; Female ; Genetic Diseases, Inborn ; Humans ; Male ; Pedigree ; Point Mutation* ; Protein C/genetics* ; Protein C Deficiency* ; Recurrence ; Threonine/genetics ; Thrombosis/etiology ; Thrombosis/genetics*
Abstract
Protein 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.
Files in This Item:
T199802956.pdf Download
DOI
10.3346/jkms.1998.13.2.186
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/177007
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