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A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency.
DC Field | Value | Language |
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dc.contributor.author | 송재우 | - |
dc.contributor.author | 이경아 | - |
dc.contributor.author | 최종락 | - |
dc.date.accessioned | 2014-12-20T17:04:45Z | - |
dc.date.available | 2014-12-20T17:04:45Z | - |
dc.date.issued | 2011 | - |
dc.identifier.issn | 0091-7370 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/93921 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | open | - |
dc.relation.isPartOf | ANNALS OF CLINICAL AND LABORATORY SCIENCE | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | Amino Acid Substitution/genetics* | - |
dc.subject.MESH | Antithrombin III/genetics* | - |
dc.subject.MESH | Antithrombin III Deficiency/genetics* | - |
dc.subject.MESH | Asian Continental Ancestry Group/genetics* | - |
dc.subject.MESH | Base Sequence | - |
dc.subject.MESH | Binding Sites | - |
dc.subject.MESH | DNA Mutational Analysis | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Heparin/metabolism* | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Molecular Sequence Data | - |
dc.subject.MESH | Mutation, Missense/genetics* | - |
dc.subject.MESH | Pedigree | - |
dc.subject.MESH | Republic of Korea | - |
dc.title | A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency. | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학) | - |
dc.contributor.googleauthor | Jong-Ha Yoo | - |
dc.contributor.googleauthor | Ho-Young Maeng | - |
dc.contributor.googleauthor | Hee-Jin Kim | - |
dc.contributor.googleauthor | Kyung-A Lee | - |
dc.contributor.googleauthor | Jong-Rak Choi | - |
dc.contributor.googleauthor | Jaewoo Song | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A01347 | - |
dc.contributor.localId | A02054 | - |
dc.contributor.localId | A02647 | - |
dc.contributor.localId | A04182 | - |
dc.relation.journalcode | J00155 | - |
dc.identifier.eissn | 1550-8080 | - |
dc.identifier.pmid | 21325262 | - |
dc.identifier.url | http://www.annclinlabsci.org/content/41/1/89.long | - |
dc.contributor.alternativeName | Maeng, Ho Young | - |
dc.contributor.alternativeName | Song, Jae Woo | - |
dc.contributor.alternativeName | Lee, Kyung A | - |
dc.contributor.alternativeName | Choi, Jong Rak | - |
dc.contributor.affiliatedAuthor | Maeng, Ho Young | - |
dc.contributor.affiliatedAuthor | Song, Jae Woo | - |
dc.contributor.affiliatedAuthor | Lee, Kyung A | - |
dc.contributor.affiliatedAuthor | Choi, Jong Rak | - |
dc.rights.accessRights | not free | - |
dc.citation.volume | 41 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 89 | - |
dc.citation.endPage | 92 | - |
dc.identifier.bibliographicCitation | ANNALS OF CLINICAL AND LABORATORY SCIENCE, Vol.41(1) : 89-92, 2011 | - |
dc.identifier.rimsid | 28546 | - |
dc.type.rims | ART | - |
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