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

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...

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Autores:
Greizy López
Nancy Yaneth Gelvez
Luisa Fernanda Urrego
Silvia Florez
David Medina
Vicente Rodríguez
Marta Lucía Tamayo
Tipo de recurso:
Article of investigation
Fecha de publicación:
2015
Institución:
Colegio Mayor de Cundinamarca
Repositorio:
Repositorio Colegio Mayor de Cundinamarca
Idioma:
spa
OAI Identifier:
oai:repositorio.universidadmayor.edu.co:unicolmayor/4370
Acceso en línea:
https://doi.org/10.22490/24629448.1038
https://repositorio.universidadmayor.edu.co/handle/unicolmayor/4370
Palabra clave:
Rights
openAccess
License
https://creativecommons.org/licenses/by/4.0/
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spelling Greizy López4e74436bfc916ab38b0838e70f196c27500Nancy Yaneth Gelvez524ebd56c0ca48835ed31ddce332d651300Luisa Fernanda Urrego48f8dcb2e852b6349dd0fd0cb721f693300Silvia Florezf5c508c2b240428d9679250a51d50ae7300David Medina7c5affc3f4dff56485c455ea74cbd623300Vicente Rodríguez045f80569c38fcaa42c1ca2606c82bd0300Marta Lucía Tamayod01fd17b59ea390c4933c77dee93d9d53002021-12-09T14:40:21Z2021-12-09T14:40:21Z2015-12-311794-2470https://doi.org/10.22490/24629448.1038https://repositorio.universidadmayor.edu.co/handle/unicolmayor/437010.22490/24629448.1038Objective: 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.application/pdftext/htmlspaUniversidad Colegio Mayor de Cundinamarcahttps://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2https://revistas.unicolmayor.edu.co/index.php/nova/article/view/269Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia NeurosensorialArtículo de revistaJournal Articlehttp://purl.org/coar/resource_type/c_2df8fbb1http://purl.org/coar/version/c_970fb48d4fbd8a85Textinfo:eu-repo/semantics/articlehttp://purl.org/redcol/resource_type/ARTinfo:eu-repo/semantics/publishedVersionhttps://revistas.unicolmayor.edu.co/index.php/nova/article/download/269/511https://revistas.unicolmayor.edu.co/index.php/nova/article/download/269/512Núm. 22 , Año 20142212NOVAOREORE.xmltext/xml2669https://repositorio.universidadmayor.edu.co/bitstream/unicolmayor/4370/1/ORE.xmlba1c3cfea55ad1a595d349453edc3befMD51open accessunicolmayor/4370oai:repositorio.universidadmayor.edu.co:unicolmayor/43702022-04-27 15:22:58.831An error occurred on the license name.|||https://creativecommons.org/licenses/by/4.0/metadata only accessBiblioteca Digital Unicolmayorrepositorio@unicolmayor.edu.co
dc.title.spa.fl_str_mv Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial
title Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial
spellingShingle Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial
title_short Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial
title_full Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial
title_fullStr Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial
title_full_unstemmed Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial
title_sort Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial
dc.creator.fl_str_mv Greizy López
Nancy Yaneth Gelvez
Luisa Fernanda Urrego
Silvia Florez
David Medina
Vicente Rodríguez
Marta Lucía Tamayo
dc.contributor.author.none.fl_str_mv Greizy López
Nancy Yaneth Gelvez
Luisa Fernanda Urrego
Silvia Florez
David Medina
Vicente Rodríguez
Marta Lucía Tamayo
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.
publishDate 2015
dc.date.issued.none.fl_str_mv 2015-12-31
dc.date.accessioned.none.fl_str_mv 2021-12-09T14:40:21Z
dc.date.available.none.fl_str_mv 2021-12-09T14:40:21Z
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dc.identifier.uri.none.fl_str_mv https://doi.org/10.22490/24629448.1038
https://repositorio.universidadmayor.edu.co/handle/unicolmayor/4370
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identifier_str_mv 1794-2470
10.22490/24629448.1038
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https://repositorio.universidadmayor.edu.co/handle/unicolmayor/4370
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language spa
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dc.relation.citationedition.none.fl_str_mv Núm. 22 , Año 2014
dc.relation.citationissue.none.fl_str_mv 22
dc.relation.citationvolume.none.fl_str_mv 12
dc.relation.ispartofjournal.none.fl_str_mv NOVA
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eu_rights_str_mv openAccess
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text/html
dc.publisher.none.fl_str_mv Universidad Colegio Mayor de Cundinamarca
publisher.none.fl_str_mv Universidad Colegio Mayor de Cundinamarca
dc.source.spa.fl_str_mv https://revistas.unicolmayor.edu.co/index.php/nova/article/view/269
institution Colegio Mayor de Cundinamarca
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