Article
Functional variant in methionine synthase reductase intron-1 is associated with pleiotropic congenital malformations.
Molecular and cellular biochemistry - 1 Sept 2015
Cheng Haiqin, Li Huili, Bu Zhaoli, Zhang Qin, Bai Baoling, Zhao Hong, Li Ren-Ke, Zhang Ting, Xie Jun
Abstract excerpt
Congenital malformations, such as neural tube defects (NTDs) and congenital heart disease (CHD), cause significant fetal mortality and childhood morbidity. NTDs are a common congenital anomaly, and are typically induced by higher maternal homocysteine (Hcy) levels and abnormal folate metabolism. The gene encoding methionine synthase reductase (MTRR) is essential for adequate remethylation of Hcy. Previous studies...
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