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.
keywords ARCI Autosomal Recessive Congenital Ichthyosis Cloning In silico predictions Transglutaminase 1 Transglutaminase K Variant in site acceptor splicing consensus