Listar por tema "mutation"

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  • In vitro development and analysis of escherichia coli and shigella boydii azithromycin-resistant mutants 
    Gomes, Claudia; Pons, Maria J.; Magallon-Tejada, Ariel; Durand Vara, David Percy; Lluque, Angela; Mosquito, Susan; Riveros Ramirez, Maribel Denise; Mercado, Erik; Prada, Ana; Ochoa Woodell, Theresa Jean; Ruiz, Joaquim (Mary Ann Liebert, 2013)
    Three clinical isolates of E. coli and one S. boydii isolated from feces samples collected from children under 5 years of age with diarrhea in Lima, Peru were inoculated onto Mueller-Hinton plates containing increasing ...
  • Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study 
    García Castaño, A.; Pérez de Nanclares, G.; Madariaga, L.; Aguirre, M.; Chocron, S.; Madrid, A.; Lafita Tejedor, F.J.; Gil Campos, M.; Sánchez del Pozo, J.; Ruiz Cano, R.; Espino, M.; Gomez Vida, J.M.; Santos, F.; García Nieto, V.M.; Loza, R.; Rodríguez, L.M.; Hidalgo Barquero, E.; Printza, N.; Camacho, J.A.; Castaño, L.; Ariceta, G.; RenalTube Group (Springer, 2015)
    Molecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to concentrate urine. The AVPR2 and AQP2 genes were screened for mutations ...
  • Origin and dynamics of admixture in Brazilians and its effect on the pattern of deleterious mutations 
    Kehdy, F.S.G.; Gouveia, M.H.; Machado, M.; Magalhães, W.C.S.; Horimoto, A.R.; Horta, B.L.; Moreira, R.G.; Leal, T.P.; Scliar, M.O.; Soares-Souza, G.B.; Rodrigues-Soares, F.; Araújo, G.S.; Zamudio, R.; Sant Anna, H.P.; Santos, H.C.; Duarte, N.E.; Fiaccone, R.L.; Figueiredo, C.A.; Silva, T.M.; Costa, G.N.O.; Beleza, S.; Berg, D.E.; Cabrera, L.; Debortoli, G.; Duarte, D.; Ghirotto, S.; Gilman, Robert Hugh; Gonçalves, V.F.; Marrero, A.R.; Muniz, Y.C.; Weissensteiner, H.; Yeager, M.; Rodrigues, L.C.; Barreto, M.L.; Lima-Costa, M.F.; Pereira, A.C.; Rodrigues, M.R.; Tarazona-Santos, E. (National Academy of Sciences, 2015)
    While South Americans are underrepresented in human genomic diversity studies, Brazil has been a classical model for population genetics studies on admixture.We present the results of the EPIGEN Brazil Initiative, the most ...

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