Browsing by Author "Gelvez, Nancy Yaneth"
Now showing 1 - 1 of 1
Results Per Page
Sort Options
- 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.
Items seleccionados: 0