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Evidence 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:googlescopusMolecular 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