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dc.contributor.advisorLaissue, Paul 
dc.contributor.advisorFonseca-Mendoza, Dora Janeth 
dc.creatorMoreno Saboya, Meyid Bernardo 
dc.date.accessioned2016-12-12T12:42:34Z
dc.date.available2016-12-12T12:42:34Z
dc.date.created2016-11-16
dc.date.issued2016
dc.identifier.urihttp://repository.urosario.edu.co/handle/10336/12687
dc.descriptionSe describe la variante homocigota c.320-2A>G de TGM1 en dos hermanas con ictiosis congénita autosómica recesiva. El clonaje de los transcritos generados por esta variante permitió identificar tres mecanismos moleculares de splicing alternativos.
dc.description.abstractThe variant c.320-2A> G of TGM1 is described in two sisters with autosomal recessive congenital ichthyosis. The cloning of the transcripts generated by this variant allowed the identification of three alternative molecular splicing mechanisms.
dc.description.sponsorshipUnidad de Genética, Facultad de Medicina, Colegio Mayor de Nuestra Señora del Rosario
dc.description.sponsorshipGrupo CIGGUR, centro de Investigación en Genética y Genómica Universidad del Rosario
dc.description.sponsorshipUnidad de Dermatología, Clínica Carlos Ardila Lule, Bucaramanga.
dc.format.mimetypeapplication/pdf
dc.language.isospa
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/2.5/co/
dc.sourceinstname:Universidad del Rosario
dc.sourcereponame:Repositorio Institucional EdocUR
dc.subjectIctiosis congénita autosómica recesiva
dc.subjectARCI
dc.subjectTransglutaminasa K
dc.subjectTransglutaminasa 1
dc.subjectTGM1
dc.subjectVariante en sitio consenso aceptor de splicing
dc.subjectPredicciones in silico
dc.subjectClonaje
dc.subject.ddcEnfermedades 
dc.titleEstudio molecular en dos hermanas afectadas por ictiosis congénita autosómica recesiva : descripción de una nueva mutación causal en TGM1
dc.typemasterThesis
dc.publisherUniversidad del Rosario
dc.creator.degreeMagíster en Ciencias con Énfasis en Genética Humana
dc.publisher.programMaestría en Ciencias con Énfasis en Genética Humana
dc.publisher.departmentFacultad de medicina
dc.subject.keywordAutosomal Recessive Congenital Ichthyosis
dc.subject.keywordARCI
dc.subject.keywordTransglutaminase K
dc.subject.keywordTransglutaminase 1
dc.subject.keywordVariant in site acceptor splicing consensus
dc.subject.keywordIn silico predictions
dc.subject.keywordCloning
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.subject.decsIctiosis
dc.subject.decsMutación
dc.type.spaTesis de maestría
dc.rights.accesoAbierto (Texto completo)
dc.type.hasVersioninfo:eu-repo/semantics/acceptedVersion
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dc.rights.ccAtribución-NoComercial-SinDerivadas 2.5 Colombia
dc.rights.ccAtribución-NoComercial-SinDerivadas 2.5 Colombia
dc.rights.licenciaEL AUTOR, manifiesta que la obra objeto de la presente autorización es original y la realizó sin violar o usurpar derechos de autor de terceros, por lo tanto la obra es de exclusiva autoría y tiene la titularidad sobre la misma. PARGRAFO: En caso de presentarse cualquier reclamación o acción por parte de un tercero en cuanto a los derechos de autor sobre la obra en cuestión, EL AUTOR, asumirá toda la responsabilidad, y saldrá en defensa de los derechos aquí autorizados; para todos los efectos la universidad actúa como un tercero de buena fe. EL AUTOR, autoriza a LA UNIVERSIDAD DEL ROSARIO, para que en los términos establecidos en la Ley 23 de 1982, Ley 44 de 1993, Decisión andina 351 de 1993, Decreto 460 de 1995 y demás normas generales sobre la materia, utilice y use la obra objeto de la presente autorización. -------------------------------------- POLITICA DE TRATAMIENTO DE DATOS PERSONALES. Declaro que autorizo previa y de forma informada el tratamiento de mis datos personales por parte de LA UNIVERSIDAD DEL ROSARIO para fines académicos y en aplicación de convenios con terceros o servicios conexos con actividades propias de la academia, con estricto cumplimiento de los principios de ley. Para el correcto ejercicio de mi derecho de habeas data cuento con la cuenta de correo habeasdata@urosario.edu.co, donde previa identificación podré solicitar la consulta, corrección y supresión de mis datos.


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