Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial

Molecular analyses of 2299delG and C759F mutations in Colombian Retinitis Pigmentosa and Sensorineural hearing loss affected individuals

Publicado 2014-12-31

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Vol. 12 Núm. 22 (2014)
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Artículo Original Producto de Investigación
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López, G., Gelvez, N. Y., Urrego, L. F., Florez, S., Medina, D., Rodríguez, V., & Tamayo, M. L. (2014). Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial. REVISTA NOVA , 12(22). https://doi.org/10.22490/24629448.1038
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https://doi.org/10.22490/24629448.1038
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NOVA por http://www.unicolmayor.edu.co/publicaciones/index.php/nova se distribuye bajo una Licencia Creative Commons Atribución-NoComercial-SinDerivar 4.0 Internacional.

Así mismo,  los autores mantienen sus derechos de propiedad intelectual sobre los artículos.  

Greizy López
Universidad Nacional Abierta y a Distancia - UNAD
    Nancy Yaneth Gelvez
    Universidad Javeriana
      Luisa Fernanda Urrego
      Universidad del Rosario
        Silvia Florez
        Fundación Oftalmológica Nacional
          David Medina
          Fundación Oftalmológica Nacional
            Vicente Rodríguez
            Hospital San Ignacio, Universidad Javeriana
              Marta Lucía Tamayo
              Universidad Javeriana
                Mostrar biografía de los autores

                Objective: To determine the presence of 2299delG and C759F mutations in 37 non-related subjects from Colom­bia suffering from RP and sensorineural deafness. Materials and methods:Exon 13 of USH2A gene was directly sequenced in all subjects selected for the study. Results: In this work, the 2299delG mutation was only observed in subjects suffering from Usher syndrome type II while the C759F mutation was not detected in any subject.

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                42. ==========================================
                43. DOI: http://dx.doi.org/10.22490/24629448.1038
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