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Estudio molecular en dos hermanas afectadas por ictiosis congénita autosómica recesiva : descripción de una nueva mutación causal en TGM1
(Universidad del RosarioMaestría en Ciencias con Énfasis en Genética HumanaFacultad de medicina, 2016)
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 ...
Autoantibody and environmental damage to the brain
(Universidad del RosarioDoctorado en Ciencias BiomédicasFacultad de Ciencias Naturales y Matemáticas, 2016)
Behavioral abnormalities and cognitive dysfunction may be present in patients with autoimmune diseases. The mechanisms that responsible for these neuropsychiatric manifestations are still largely unknown, however several ...