C677T variant form at the MTHFR gene and CL/P: a risk factor for mothers?

@article{Martinelli2001C677TVF,
  title={C677T variant form at the MTHFR gene and CL/P: a risk factor for mothers?},
  author={Marcella Martinelli and Luca Scapoli and Furio Pezzetti and Francesco Carinci and Paolo Carinci and Giordano Stabellini and Luigi Bisceglia and Fernando Gombos and Mauro Tognon},
  journal={American journal of medical genetics},
  year={2001},
  volume={98 4},
  pages={
          357-60
        }
}
Maternal folic acid supplementation in early pregnancy has been suggested to play a role in the prevention of nonsyndromic orofacial cleft, i.e., cleft lip with or without cleft palate (CL/P). Moreover, some authors demonstrated association of the C-->T mutation (C677T), converting an alanine to a valine residue in 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, with other congenital anomalies such as neural tube defects (NTDs). Because of MTHFR's involvement in the metabolism of folate… CONTINUE READING
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