Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5’ splice site

Por Martínez-Pizarro, Ainhoa, Dembic, Maja, Pérez, Belén, Andresen, Brage S., Desviat, Lourdes R.
Publicado no PLoS Genet (2018)

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

Por Doktor, Thomas Koed, Hua, Yimin, Andersen, Henriette Skovgaard, Brøner, Sabrina, Liu, Ying Hsiu, Wieckowska, Anna, Dembic, Maja, Bruun, Gitte Hoffmann, Krainer, Adrian R., Andresen, Brage Storstein
Publicado no Nucleic Acids Res (2017)