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

short description

  • Master's thesis

Thesis author

  • Moreno Saboya, Meyid Bernardo

external tutor

  • Laissue, Paul

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.

publication date

  • 2016-11-16

keywords

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

Document Id

  • 728e92b8-97b6-421b-ab1f-3f20864542fc