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https://repository.unad.edu.co/handle/10596/46817| Title: | Molecular analyses of 2299delG and C759F mutations in Colombian Retinitis Pigmentosa and Sensorineural hearing loss affected individuals Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial |
| metadata.dc.creator: | López, Greizy Gelvez, Nancy Urrego, Luisa Fernanda Florez, Silvia Rodríguez, Vicente Tamayo, Marta Lucía Medina, David |
| Keywords: | Usher Syndromes;Deaf-Blind Disorders;Sensorineural Hearing Loss;Retinitis Pigmentosa;Mutation;Genetics.;síndrome de Usher;trastornos sordoceguera;pérdida auditiva sensorineural;retinitis pigmentosa;mutación. |
| Publisher: | Universidad Colegio Mayor de Cundinamarca |
| metadata.dc.relation: | https://hemeroteca.unad.edu.co/index.php/nova/article/view/1038/1035 |
| metadata.dc.format.*: | application/pdf |
| metadata.dc.type: | info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion info:eu-repo/article/published info:eu-repo/article/published info:eu-repo/article/published |
| Description: | 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. Determinar la presencia de las mutaciones 2299delG y C759F en 37 individuos colombianos no relacionados que presentan RP e hipoacusia neurosensorial. Materiales y métodos: análisis de secuencia directa del exón 13 del gen USH2A en todos los individuos seleccionados para el estudio. Resultados: la mutación 2299delG fue observada únicamente en individuos con Síndrome de Usher tipo II, mientras que la mutación C759F, no fue identificada en los individuos del estudio. |
| metadata.dc.source: | NOVA Biomedical Sciences Journal; Vol. 12 No. 22 (2014); 131-141 Nova; Vol. 12 Núm. 22 (2014); 131-141 NOVA Ciências Biomédicas Publicação; v. 12 n. 22 (2014); 131-141 2462-9448 1794-2470 |
| URI: | https://repository.unad.edu.co/handle/10596/46817 |
| Other Identifiers: | https://hemeroteca.unad.edu.co/index.php/nova/article/view/1038 10.22490/24629448.1038 |
| Appears in Collections: | Revista Nova |
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