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Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population
ArticleAbstract: BACKGROUND AND OBJECTIVE: Studies on different populations have shown a great variability of the frePalabras claves:1298A-C MTHFR, 66A-G MTRR, 677C-T MTHFR, Down syndrome, Frequencies, Genotypes, One carbone methabolism, polymorphismsAutores:Aparicio P., Arroyo I., Barcia J.M., Bermejo E., Beseler B., Blanco M., Canduela V., Castro M., Centeno F., Climent S., De Azúa Brea B., Desviat L.R., Félix V., Fernández E., Galán E., García A., Garcia M.J., Garijo C., Gomar J.L., Lara A., Leal F., Lertxundi M.M., López J.A., López S., Mansilla E., Marco J.J., Martín F., Martínez A., Martínez M., Martínez M.N., Martínez S., Martínez-Fernández M.L., Martínez-Frías M.L., Mousallem A.G., Nieto C., Paisán L., Peñas A., Perez B., Puig I., Riano I., Rodríguez L., Rodríguez-Pinilla E., Sánchez C., Sanchis A., Suárez M.E., Suay M., Tapia J.M., Ugarte M., Washington Stalin García CuentaFuentes:scopusMaternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR geness: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?
ArticleAbstract: This study was aimed at analyzing the effect of mutations in three non-synonymous SNP genes (677C >Palabras claves:1298A-C MTHFR, 66A-G MTRR, 677C-T MTHFR, Down syndrome, folate, Functional polymorphisms, homocysteine, Methionine synthase reductase, Methylenetetrahydrofolate reductase, One-carbon metabolismAutores:Aparicio P., Arroyo I., Azúa De Brea B., Barcia J.M., Bermejo E., Beseler B., Blanco M., Canduela V., Castro M., Centeno F., Climent S., Desviat L.R., Félix V., Fernández E., Galán E., García A., Garcia M.J., Garijo C., Gomar J.L., Gómez-Rodríguez F., Lara A., Leal F., Lertxundi M.M., López J.A., López S., Mansilla E., Marco J.J., Martín F., Martínez A., Martínez M.N., Martínez S., Martínez-Fernández M.L., Martínez-Frías M.L., Mousallem A.G., Nieto C., Paisán L., Peñas A., Perez B., Prieto-Merino D., Puig I., Riano I., Rodríguez L., Rodríguez-Pinilla E., Sánchez C., Sanchis A., Suárez M.E., Suay M., Tapia J.M., Ugarte M., Washington Stalin García CuentaFuentes:scopus