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

Title
 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
Issue Date
2011
Journal Title
 Annals of Clinical and Laboratory Science
ISSN
 0091-7370
Citation
 Annals of Clinical and Laboratory Science, Vol.41(1) : 89~92, 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
http://ir.ymlib.yonsei.ac.kr/handle/22282913/93921
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Laboratory Medicine
1. 연구논문 > 1. College of Medicine > Dept. of Internal Medicine
Yonsei Authors
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Link
 http://www.annclinlabsci.org/content/41/1/89.long
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