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        Small mutation screening in the DMD gene by whole exome sequencing of an Argentine Duchenne/Becker muscular dystrophies cohort 

        Luce, Leonela Natalia; Carcione, María Micaela; Mazzanti, Chiara; Ferrer, Marcela Maria; Szijan, Irene; Giliberto, Florencia (Pergamon-Elsevier Science Ltd, 2018-12)
        Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical ...

        Erythrocyte alkaline phosphatase in patients with myotonic muscle disorders 

        Goldemberg, Adriana Lía; Madrid, Enrique Alberto; Garcia, Alicia Mabel; Roubicek, Martín; Trucco, Raúl Esteban (Universidad del Zulia, 2013)

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        Red de Repositorios Latinoamericanos
        + of 4.000.000
        Available publications
        163 Participating institutions
        Dirección de Servicios de Información y Bibliotecas (SISIB)
        Universidad de Chile
        Membership Login
        Featured collections
        • Latin American Theses
        • Argentinean Theses
        • Chilean Theses
        • Peruvian Theses
        Latest collections added
        • Argentina
        • Brazil
        • Colombia
        • México
        Dirección de Servicios de Información y Bibliotecas (SISIB)
        Universidad de Chile
        Red de Repositorios Latinoamericanos | 2006-2018