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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

Authors
 Kyung Soon Song  ;  Jae Woo Song  ;  Jong Rak Choi  ;  Hyun Kyung Kim  ;  Jung Sik Shin  ;  Jeong Ho Kim 
Citation
 Experimental and Molecular Medicine, Vol.33(2) : 106-109, 2001 
Journal Title
 Experimental and Molecular Medicine 
ISSN
 1226-3613 
Issue Date
2001
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.
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/142548
DOI
10.1038/emm.2001.19
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실)
Yonsei Authors
최종락(Choi, Jong Rak)
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