A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis
Titel:
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis
Auteur:
Ferrer-Cortès, Xènia Narbona, Juan Bujan, Núria Matalonga, Leslie Del Toro, Mireia Arranz, José Antonio Riudor, Encarnació Garcia-Cazorla, Angels Jou, Cristina O'Callaghan, Mar Pineda, Mercé Montero, Raquel Arias, Angela García-Villoria, Judit Alston, Charlotte L. Taylor, Robert W. Briones, Paz Ribes, Antonia Tort, Frederic