Mostrando 8 resultados de: 8
Filtros aplicados
Publisher
Elsevier(2)
SPRINGER(2)
American Journal of Human Genetics(1)
Clinica Chimica Acta(1)
Clinical Biochemistry(1)
Área temáticas
Enfermedades(7)
Farmacología y terapéutica(4)
Fisiología humana(3)
Anatomía humana, citología, histología(2)
Fisiología y materias afines(2)
Characterization of two pathogenic mutations in cystathionine beta-synthase: Different intracellular locations for wild-type and mutant proteins
ArticleAbstract: Cystathionine β-synthase (CBS) is a pyridoxal 5'-phosphate (PLP)-dependent enzyme that catalyzes thePalabras claves:Cystathionine beta-synthase, Homocystinuria, immunocytochemistry, Protein misfoldingAutores:Banerjee R., Casique L., J. C. Martínez, Kabil O., M. De Lucca, Marisel De Lucca, Martínez J.C.Fuentes:googlescopusEvidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity.
OtherAbstract: 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, Marisel De Lucca, Perez B., Schmidt B., Ugarte M.Fuentes:googlescopusIMMUNOFLUORESCENCE MICROSCOPY IS A USEFUL TOOL FOR EVALUATING THE EXPRESSION OF MUTANT CBS PROTEINS IN EUKARYOTIC CELLS
OtherAbstract:Palabras claves:Autores:Marisel De LuccaFuentes:googleIdentificacion de una nueva mutacion en el exon 1 del gen fenilalanina hidroxilasa (pah).
OtherAbstract: La Fenilcetonuria clásica (PKU, MIM# 261600) comprende un error innato del metabolismo causado por lPalabras claves:Autores:Marisel De LuccaFuentes:googleImproving phenylketonuria genotyping by screening for the IVS4+ 5g> t mutation in the PAH gene
OtherAbstract: Improving phenylketonuria genotyping by screening for the IVS4+5g>t mutation in the PAH gene × ClosePalabras claves:Autores:Araujo K., Arias I., Casique L., M. De Lucca, Marisel De Lucca, Merzon R.M.Fuentes:googlescopusIndependent origin for m.3243A>G mitochondrial mutation in three Venezuelan cases of MELAS syndrome
ArticleAbstract: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multiPalabras claves:Heteroplasmy, MELAS syndrome, Mitochondrial haplogroup, MT-TL1 gene, MtDNA, Venezuelan patientsAutores:Carmen Luisa Domínguez, Casique L., Domínguez C.L., Florez I., José Luis Ramírez, M. De Lucca, Mahfoud A., Marisel De Lucca, Pirrone I., Ramirez J.L., Rodríguez D., Rodríguez T.Fuentes:googlescopusUSING HIGH RESOLUTION MELTING FOR MUTATION SCANNING ON PAH, GALT, GCDH, AND CBS GENES
OtherAbstract:Palabras claves:Autores:Marisel De LuccaFuentes:googleMolecular characterization of phenylalanine hydroxylase deficiency in Chile
OtherAbstract: Both the haplotype distribution and the mutational spectrum of the phenylalanine hydroxylase (PAH) gPalabras claves:Autores:Marisel De LuccaFuentes:google