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Estudio molecular en dos hermanas afectadas por ictiosis congénita autosómica recesiva : descripción de una nueva mutación causal en TGM1

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dc.contributor.advisorLaissue, Paul
dc.contributor.advisorFonseca Mendoza, Dora Janeth
dc.creatorMoreno Saboya, Meyid Bernardo
dc.creator.degreeMagíster en Ciencias con Énfasis en Genética Humana
dc.date.accessioned2016-12-12T12:42:34Z
dc.date.available2016-12-12T12:42:34Z
dc.date.created2016-11-16
dc.date.issued2016
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.spa
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.eng
dc.description.sponsorshipUnidad de Genética, Facultad de Medicina, Colegio Mayor de Nuestra Señora del Rosariospa
dc.description.sponsorshipGrupo CIGGUR, centro de Investigación en Genética y Genómica Universidad del Rosariospa
dc.description.sponsorshipUnidad de Dermatología, Clínica Carlos Ardila Lule, Bucaramanga.spa
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.48713/10336_12687
dc.identifier.urihttp://repository.urosario.edu.co/handle/10336/12687
dc.language.isospa
dc.publisherUniversidad del Rosariospa
dc.publisher.departmentFacultad de medicinaspa
dc.publisher.programMaestría en Ciencias con Énfasis en Genética Humanaspa
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dc.rights.accesoAbierto (Texto completo)spa
dc.rights.ccAtribución-NoComercial-SinDerivadas 2.5 Colombiaspa
dc.rights.ccAtribución-NoComercial-SinDerivadas 2.5 Colombiaspa
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dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subjectIctiosis congénita autosómica recesivaspa
dc.subjectARCIspa
dc.subjectTransglutaminasa Kspa
dc.subjectTransglutaminasa 1spa
dc.subjectTGM1spa
dc.subjectVariante en sitio consenso aceptor de splicingspa
dc.subjectPredicciones in silicospa
dc.subjectClonajespa
dc.subject.ddcEnfermedades
dc.subject.decsIctiosisspa
dc.subject.decsMutaciónspa
dc.subject.keywordAutosomal Recessive Congenital Ichthyosiseng
dc.subject.keywordARCIeng
dc.subject.keywordTransglutaminase Keng
dc.subject.keywordTransglutaminase 1eng
dc.subject.keywordVariant in site acceptor splicing consensuseng
dc.subject.keywordIn silico predictionseng
dc.subject.keywordCloningeng
dc.titleEstudio molecular en dos hermanas afectadas por ictiosis congénita autosómica recesiva : descripción de una nueva mutación causal en TGM1spa
dc.typemasterThesiseng
dc.type.hasVersioninfo:eu-repo/semantics/acceptedVersion
dc.type.spaTesis de maestríaspa
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ESTUDIO-MOLECULAR-EN-DOS-HERMANAS-AFECTADAS-POR-ICTIOSIS-CONGeNITA-AUTOSOMICA-RECESIVA.pdf
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Maestría en Genética Humana