A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

by Arístegui Javier, Garrote Elisa, Rodríguez Jose A, Sarasola Esther, García-Barcina Maria J
Published 2011-06-01

Mutational spectrum of the <it>SPG4 </it>(<it>SPAST</it>) and <it>SPG3A </it>(<it>ATL1</it>) genes in Spanish patients with hereditary spastic paraplegia

by Ribacoba Renne, Moris Germán, de Munain Adolfo, Pascual-Pascual Samuel I, Gonzalo Juan F, Esteban Jesús, Gámez Josep, Corao Ana I, Alonso Belén, Díaz Marta, Beetz Christian, Sánchez-Ferrero Elena, Álvarez Victoria, Márquez Celedonio, Rosell Jordi, Marín Rosario, García-Barcina Maria J, del Castillo Emilia, Benito Carmen, Coto Eliecer
Published 2010-10-01