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Maternal 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:scopusMolecular basis of phenylketonuria in Venezuela: Presence of two novel null mutations
ArticleAbstract: This report describes the mutational spectrum and linked haplotypes of the phenylalanine hydroxylasePalabras claves:Expression analysis, mutation, PKUAutores:Desviat L.R., M. De Lucca, Perez B., Ugarte M.Fuentes:scopusMolecular characterization of phenylalanine hydroxylase deficiency in Chile. Mutations in brief no. 243. Online.
ArticleAbstract: Both the haplotype distribution and the mutational spectrum of the phenylalanine hydroxylase (PAH) gPalabras claves:Autores:Cornejo V., Desviat L.R., M. De Lucca, Perez B., Raimann E., Ugarte M.Fuentes:scopus