4 138

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  ;  Hee-Jin Kim  ;  Kyung-A Lee  ;  Jong-Rak Choi  ;  Jaewoo Song 
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
Full Text
http://www.annclinlabsci.org/content/41/1/89.long
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)
Export
RIS (EndNote)
XLS (Excel)
XML
사서에게 알리기
  feedback

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse