Cited 6 times in
Homozygous V/V (677C to T) and D/D (2756G to A) variants in the methylenetetrahydrofolate and methionine synthase genes in a case of hyperhomocysteinemia with stroke at young age
DC Field | Value | Language |
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dc.contributor.author | 최종락 | - |
dc.date.accessioned | 2016-02-19T11:10:04Z | - |
dc.date.available | 2016-02-19T11:10:04Z | - |
dc.date.issued | 2001 | - |
dc.identifier.issn | 1226-3613 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/142548 | - |
dc.description.abstract | Hyperhomocysteinemia is known to be associated with an increased risk of myocardial infarction, stroke, peripheral arterial disease, and venous thrombosis. Gene polymorphisms in methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MS) may account for reduced enzyme activity and hyperhomocysteinemia. A recent study has documented evidence of polygenic regulation of plasma homocyteine. We report here on a case of occlusive stroke at young age and hyperhomocysteinemia with homozygous V/V (677C to T) variant in the MTHFR gene as well as homozygous D/D (2756G to A) variant in the MS gene. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 106~109 | - |
dc.relation.isPartOf | EXPERIMENTAL AND MOLECULAR MEDICINE | - |
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 | 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase/genetics* | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | DNA/metabolism | - |
dc.subject.MESH | DNA Restriction Enzymes/metabolism | - |
dc.subject.MESH | Family Health | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Genetic Variation | - |
dc.subject.MESH | Genotype | - |
dc.subject.MESH | Homocysteine/blood | - |
dc.subject.MESH | Homocysteine/genetics | - |
dc.subject.MESH | Homozygote* | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Hyperhomocysteinemia/genetics* | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Polymorphism, Genetic | - |
dc.subject.MESH | Stroke/genetics* | - |
dc.subject.MESH | Tetrahydrofolates/genetics* | - |
dc.title | Homozygous V/V (677C to T) and D/D (2756G to A) variants in the methylenetetrahydrofolate and methionine synthase genes in a case of hyperhomocysteinemia with stroke at young age | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학) | - |
dc.contributor.googleauthor | Kyung Soon Song | - |
dc.contributor.googleauthor | Jae Woo Song | - |
dc.contributor.googleauthor | Jong Rak Choi | - |
dc.contributor.googleauthor | Hyun Kyung Kim | - |
dc.contributor.googleauthor | Jung Sik Shin | - |
dc.contributor.googleauthor | Jeong Ho Kim | - |
dc.identifier.doi | 10.1038/emm.2001.19 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A04182 | - |
dc.relation.journalcode | J00860 | - |
dc.identifier.eissn | 2092-6413 | - |
dc.identifier.pmid | 11460881 | - |
dc.subject.keyword | methylenetetrahydrofolate reductase | - |
dc.subject.keyword | methionine synthase | - |
dc.subject.keyword | homocysteine | - |
dc.subject.keyword | stroke | - |
dc.contributor.alternativeName | Choi, Jong Rak | - |
dc.contributor.affiliatedAuthor | Choi, Jong Rak | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 33 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 106 | - |
dc.citation.endPage | 109 | - |
dc.identifier.bibliographicCitation | EXPERIMENTAL AND MOLECULAR MEDICINE, Vol.33(2) : 106-109, 2001 | - |
dc.identifier.rimsid | 31082 | - |
dc.type.rims | ART | - |
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