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A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency.

Authors
 Jong-Ha Yoo  ;  Ho-Young Maeng  ;  Jaewoo Song  ;  Jong-Rak Choi  ;  Kyung-A Lee  ;  Hee-Jin Kim 
Citation
 Annals of Clinical and Laboratory Science, Vol.41(1) : 89-92, 2011 
Journal Title
 Annals of Clinical and Laboratory Science 
ISSN
 0091-7370 
Issue Date
2011
Abstract
We describe a case of heparin binding site Arg79Cys mutation in the gene encoding antithrombin, SERPINC1, in a Korean patient with hereditary antithrombin (AT) deficiency. The patient was a 34-year-old Korean man who presented with deep vein thrombosis (DVT) in his right leg without precipitating factors. On outpatient evaluation, coagulation tests without anticoagulation revealed a decreased AT III activity level at 48%, but normal AT III antigen level at 103%, indicating type II AT deficiency. Family studies revealed that his father (62 years of age) had decreased AT activity (48%) but had normal AT antigen levels (116%), indicating that the proband had a paternally inherited type II AT deficiency. Direct sequencing of the SERPINC1 gene in the patient and his father revealed a heterozygotic missense mutation, a cytosine to thymine substitution at nucleotide position 235 in exon 2 of the SERPINC1 gene (p.Arg79Cys). To our knowledge, this is the first report of Arg79Cys heterozygote mutation in family members with venous thromboembolism.
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/93921
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실)
Yonsei Authors
맹호영(Maeng, Ho Young) ; 송재우(Song, Jae Woo) ; 이경아(Lee, Kyung A) ; 최종락(Choi, Jong Rak)
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Full Text
http://www.annclinlabsci.org/content/41/1/89.long
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