Article
Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population.
Journal of human genetics - 1 Jan 2002
De Marco Patrizia, Calevo Maria Grazia, Moroni Anna, Arata Lorenza, Merello Elisa, Finnell Richard H, Zhu Huiping, Andreussi Luciano, Cama Armando, Capra Valeria
Abstract excerpt
Homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase ( MTHFR) gene is a risk factor for neural tube defects (NTDs) in many populations, including Italians. Another common mutation on the MTHFR gene, A1298C, has also been described as a risk mutation. Furthermore, several studies have suggested that a defective methionine synthase ( MS) enzyme could be a critical defect in folate-related...
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