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

Abstract

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.