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A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency
Authors:Anne Parle-McDermott  Faith Pangilinan  Kirsty K. O'Brien  James L. Mills  Alan M. Magee  James Troendle  Marie Sutton  John M. Scott  Peadar N. Kirke  Anne M. Molloy  Lawrence C. Brody
Affiliation:1. Nutritional Genomics Group, School of Biotechnology, Dublin City University, Dublin 9, Ireland;2. Molecular Pathogenesis Section, Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland;3. Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland;4. Child Health Epidemiology Unit, Health Research Board, Dublin, Ireland;5. School of Biochemistry & Immunology, Trinity College Dublin, Dublin 2, Ireland;6. School of Medicine, Trinity College Dublin, Dublin 2, Ireland
Abstract:
Keywords:MTHFD1L  NTD  splicing  polymorphism  association  folate  mitochondria
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