Listar por tema "DNA Mutational Analysis"

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  • 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 ...
  • Pathogenomic Inference of Virulence-Associated Genes in Leptospira interrogans 
    Lehmann, Jason S.; Fouts, Derrick E.; Haft, Daniel H.; Cannella, Anthony P.; Ricaldi, Jessica N.; Brinkac, Lauren; Harkins, Derek; Durkin, Scott; Sanka, Ravi; Sutton, Granger; Moreno, Angelo; Vinetz, Joseph Michael; Matthias, Michael A. (Public Library of Science, 2013)
    Leptospirosis is a globally important, neglected zoonotic infection caused by spirochetes of the genus Leptospira. Since genetic transformation remains technically limited for pathogenic Leptospira, a systems biology ...

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