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dc.contributor.advisorLaissue, Paul 
dc.contributor.advisorFonseca-Mendoza, Dora Janeth 
dc.creatorMoreno Saboya, Meyid Bernardo
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.sourceinstname:Universidad del Rosario
dc.sourcereponame:Repositorio Institucional EdocUR
dc.subjectIctiosis congénita autosómica recesiva
dc.subjectTransglutaminasa K
dc.subjectTransglutaminasa 1
dc.subjectVariante en sitio consenso aceptor de splicing
dc.subjectPredicciones in silico
dc.titleEstudio molecular en dos hermanas afectadas por ictiosis congénita autosómica recesiva : descripción de una nueva mutación causal en TGM1
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.keywordTransglutaminase K
dc.subject.keywordTransglutaminase 1
dc.subject.keywordVariant in site acceptor splicing consensus
dc.subject.keywordIn silico predictions
dc.type.spaTesis de maestría
dc.rights.accesoAbierto (Texto completo)
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