Article
A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency.
Human mutation - 1 Dec 2009
Parle-McDermott Anne, Pangilinan Faith, O'Brien Kirsty K, Mills James L, Magee Alan M, Troendle James, Sutton Marie, Scott John M, Kirke Peadar N, Molloy Anne M, Brody Lawrence C
Abstract excerpt
Polymorphisms in folate-related genes have emerged as important risk factors in a range of diseases including neural tube defects (NTDs), cancer, and coronary artery disease (CAD). Having previously identified a polymorphism within the cytoplasmic folate enzyme, MTHFD1, as a maternal risk factor for NTDs, we considered the more recently identified mitochondrial paralogue, MTHFD1L, as a candidate gene for NTD...
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