- Original Article
- Methylenetetrahydrofolate Reductase C677T and A1298C Polymorphisms and Risk of Down Syndrome
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Kyu Young Chae, Jin Hee Han, Ji Yeong Seo, Min Jung Cho, Sehyun Kim, Nam Keun Kim
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Clin Exp Pediatr. 2004;47(10):1053-1057. Published online October 15, 2004
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Purpose : The C677T polymorphism of the methylenetetrahydrofolate reductase(MTHFR) has been suggested as a risk factor of maternal meiotic nondisjunction for Down syndrome. Recently, a second genetic polymorphism in MTHFR at position 1298 was reported. However, a positive association between the A1298C MTHFR polymorphism and Down syndrome has not been reported. Therefore, this study was undertaken to determine which polymorphism... |
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