Article
Lack of evidence of association between MTHFR C677T polymorphism and congenital heart disease in a TDT study design.
International journal of cardiology - 20 Oct 2005
Pereira Alexandre C, Xavier-Neto José, Mesquita Sônia M, Mota Glória F A, Lopes Antônio Augusto, Krieger José Eduardo
Abstract excerpt
INTRODUCTION: Hyperhomocysteinemia is frequently associated with congenital defects of the heart and neural tube. A common missense mutation in the MTHFR gene (C to T substitution at position 677 changing valine to alanine) produces a variant with reduced enzymatic action, resulting in higher plasma levels of homocysteine. The aim of this study is to investigate whether MTHFR C677T functional genetic variant is...
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