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

Autor: Moreno Saboya, Meyid Bernardo
Přispěvatelé: Laissue, Paul, Fonseca-Mendoza, Dora Janeth
Jazyk: Spanish; Castilian
Rok vydání: 2016
Předmět:
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Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
DOI: 10.48713/10336_12687
Popis: Se 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. The 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. Unidad de Genética, Facultad de Medicina, Colegio Mayor de Nuestra Señora del Rosario Grupo CIGGUR, centro de Investigación en Genética y Genómica Universidad del Rosario Unidad de Dermatología, Clínica Carlos Ardila Lule, Bucaramanga.
Databáze: OpenAIRE
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