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Article

Functional variant in methionine synthase reductase decreases the risk of Down syndrome in China.

The journal of obstetrics and gynaecology research - 1 Feb 2013

Wang Shao-Shuai, Feng Ling, Qiao Fu-Yuan, Lv Juan-Juan

Abstract excerpt

AIM: Down syndrome (DS) is the most common genetic cause of human mental retardation and the genes involved in homocysteine/folate metabolism may play important roles in this condition. Methionine synthase reductase (MTRR) is one of the key regulatory enzymes involved in the metabolic pathway of homocysteine. We investigated whether the polymorphism C524T of the MTRR gene is associated with DS. METHOD: A total of...

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Identifiers

PMID: 22925068
DOI: 10.1111/j.1447-0756.2012.01978.x

Genes

MTRR

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