Now showing items 1-3 of 3

    • Clinical genetic study in patients with tuberous sclerosis complex 

      Rubilar, Carla; López, Francisca; Troncoso Schifferli, Lucy Mónica; Barrios, Andrés; Herrera Cisterna, Luisa (Sociedad Chilena de Pediatría, 2017)
      Introduction: Tuberous sclerosis complex (TSC) is a multisystem autosomal dominant disease caused by mutations in the tumor suppressor genes TSC1 or TSC2. Objective: To characterize clinically and genetically patients ...
    • Estudio clínico genético en pacientes con complejo de esclerosis tuberosa 

      Rubilar, Carla; Liendo López, Francisca Carolina; Troncoso Schifferli, Lucy Mónica; Barrios, Andrés; Herrera Cisterna, Luisa (Sociedad Chilena de Pediatría, 2017)
      Introducción: El complejo de esclerosis tuberosa (CET) es una enfermedad autosómica dominante multisistémica producida por mutaciones en los genes supresores de tumores TSC1 o TSC2. Objetivo: Caracterizar clínica y ...
    • Lesch-Nyhan disease in two families from Chiloe island with mutations in the HPRT1 gene 

      Nguyen, Khue Vu; Silva, Sebastián; Troncoso Schifferli, Lucy Mónica; Naviaux, Robert K.; Nyhan, William L. (Taylor & Francis, 2017)
      Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report two independent ...