Estudio molecular en dos hermanas afectadas por ictiosis congénita autosómica recesiva : descripción de una nueva mutación causal en TGM1
| Contribuinte(s) |
Laissue, Paul Fonseca-Mendoza, Dora Janeth |
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| Data(s) |
16/11/2016
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| Resumo |
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. 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. 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. |
| Formato |
application/pdf |
| Identificador | |
| Idioma(s) |
spa |
| Publicador |
Facultad de medicina |
| Direitos |
info:eu-repo/semantics/openAccess |
| Fonte |
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| Palavras-Chave | #616.544 #Ictiosis #Mutación #Autosomal Recessive Congenital Ichthyosis #ARCI #Transglutaminase K #Transglutaminase 1 #Variant in site acceptor splicing consensus #In silico predictions #Cloning |
| Tipo |
info:eu-repo/semantics/masterThesis info:eu-repo/semantics/acceptedVersion |
