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dc.contributorOstos Ortiz, Olga Lucia
dc.creatorL?pez, Greizy
dc.creatorGelvez, Nancy Yaneth
dc.creatorUrrego, Luisa Fernanda
dc.creatorFlorez, Silvia
dc.creatorMedina, David
dc.creatorRodr?guez, Vicente
dc.creatorTamayo, Marta Luc?a
dc.date2016-06-14T20:55:17Z
dc.date2016-06-14T20:55:17Z
dc.date2014-08-12
dc.date.accessioned2017-12-03T21:51:42Z
dc.date.available2017-12-03T21:51:42Z
dc.identifier2462-9448
dc.identifierhttp://hdl.handle.net/10596/6635
dc.identifier.urihttp://repositorios.rumbo.edu.co/handle/123456789/104858
dc.descriptionObjective: To determine the presence of 2299delG and C759F mutations in 37 non-related subjects from Colom?bia 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.
dc.formatpdf
dc.formatapplication/pdf
dc.languagespa
dc.languagees
dc.publisherUniversidad_Nacional_Abierta_y_a_Distancia
dc.publisherUNAD
dc.relationUniversidad Javeriana, Bogot?
dc.relationInstituto de Gen?tica Humana
dc.relationEscuela de Ciencias de la Salud
dc.relationUniversidad Nacional Abierta y a Distancia
dc.relationUniversidad del Rosario
dc.relationFundaci?n Oftalmol?gica Nacional, Bogot?
dc.rightsacceso_abierto
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rightsAbierto (Texto Completo)
dc.sourceinstname:Universidad Nacional Abierta y a Distancia
dc.sourcereponame:Repositorio Institucional de la Universidad Nacional Abierta y a Distancia
dc.subjectS?ndrome de Usher
dc.subjectTrastornos sordoceguera
dc.subjectP?rdida auditiva sensorineural
dc.subjectRetinitis pigmentosa
dc.subjectMutaci?n
dc.subjectBiologia molecular
dc.subjectGenetica
dc.subjectMedicina
dc.subjectNeurolog?a
dc.subjectBiolog?a Molecular
dc.subjectGenetica
dc.subjectMedicina
dc.subjectNeurolog?a
dc.titleAn?lisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial
dc.typeJournal
dc.typeinfo:eu-repo/semantics/article
dc.typeArt?culo
dc.typeinfo:eu-repo/semantics/acceptedVersion
dc.coverageMUNDIAL


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