dc.contributor.author | Greizy López | |
dc.contributor.author | Nancy Yaneth Gelvez | |
dc.contributor.author | Luisa Fernanda Urrego | |
dc.contributor.author | Silvia Florez | |
dc.contributor.author | David Medina | |
dc.contributor.author | Vicente Rodríguez | |
dc.contributor.author | Marta Lucía Tamayo | |
dc.date.accessioned | 2021-12-09T14:40:21Z | |
dc.date.available | 2021-12-09T14:40:21Z | |
dc.date.issued | 2015-12-31 | |
dc.identifier.issn | 1794-2470 | |
dc.identifier.uri | https://doi.org/10.22490/24629448.1038 | |
dc.identifier.uri | https://repositorio.unicolmayor.edu.co/handle/unicolmayor/4370 | |
dc.description.abstract | 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. | spa |
dc.format.mimetype | application/pdf | spa |
dc.format.mimetype | text/html | spa |
dc.language.iso | spa | spa |
dc.publisher | Universidad Colegio Mayor de Cundinamarca | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | spa |
dc.source | https://revistas.unicolmayor.edu.co/index.php/nova/article/view/269 | spa |
dc.title | Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial | spa |
dc.type | Artículo de revista | spa |
dc.type | Journal Article | eng |
dc.identifier.doi | 10.22490/24629448.1038 | |
dc.relation.bitstream | https://revistas.unicolmayor.edu.co/index.php/nova/article/download/269/511 | |
dc.relation.bitstream | https://revistas.unicolmayor.edu.co/index.php/nova/article/download/269/512 | |
dc.relation.citationedition | Núm. 22 , Año 2014 | |
dc.relation.citationissue | 22 | |
dc.relation.citationvolume | 12 | |
dc.relation.ispartofjournal | NOVA | |
dc.rights.accessrights | info:eu-repo/semantics/openAccess | spa |
dc.type.coar | http://purl.org/coar/resource_type/c_2df8fbb1 | spa |
dc.type.coarversion | http://purl.org/coar/version/c_970fb48d4fbd8a85 | spa |
dc.type.content | Text | spa |
dc.type.driver | info:eu-repo/semantics/article | spa |
dc.type.redcol | http://purl.org/redcol/resource_type/ART | spa |
dc.type.version | info:eu-repo/semantics/publishedVersion | spa |
dc.rights.coar | http://purl.org/coar/access_right/c_abf2 | spa |