Browsing by Author "Medina, David"
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- Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial
Institución: Universidad Colegio Mayor de Cundinamarca
Revista: NOVA
Autores: López, Greizy; Gelvez, Nancy Yaneth; Urrego, Luisa Fernanda; Florez, Silvia; Medina, David; Rodríguez, Vicente; Tamayo, Marta Lucía
Fecha de publicación en la Revista: 2014-12-31
Fecha de cosecha en Ciencia Nacional: 2024-04-30
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. - Molecular analyses of 2299delG and C759F mutations in Colombian Retinitis Pigmentosa and Sensorineural hearing loss affected individuals
Institución: Universidad Nacional Abierta y a Distancia
Revista: Nova
Autores: López, Greizy; Gelvez, Nancy; Urrego, Luisa Fernanda; Florez, Silvia; Rodríguez, Vicente; Tamayo, Marta Lucía; Medina, David
Fecha de publicación en la Revista: 2014-12-15
Fecha de cosecha en Ciencia Nacional: 2024-04-30
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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