Mostrando 6 resultados de: 6
Filtros aplicados
Subtipo de publicación
Article(6)
Publisher
Human Mutation(2)
American Journal of Human Genetics(1)
American Journal of Medical Genetics(1)
Human mutation(1)
Medicina Clinica(1)
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:scopusEvidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity
ArticleAbstract: Phenylketonuria mutation V388M is frequent in the Iberian Peninsula. In vitro, the V388M mutant enzyPalabras claves:Autores:Cornejo V., Desviat L.R., M. De Lucca, Perez B., Schmidt B., Ugarte M.Fuentes:scopusMutation analysis of phenylketonuria in South Brazil
ArticleAbstract:Palabras claves:Autores:Desviat L.R., Giugliani R., Loghin-Grosso N., M. De Lucca, Marisel De Lucca, Perez B., Pires R.F., Schmidt B., Ugarte M.Fuentes:googlescopusMaternal 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