Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis

by Susan V. Smalley, Yudith Preiss, José Suazo, Javier Andrés Vega, Isidora Angellotti, Carlos F. Lagos, Enzo Rivera, Karin Kleinsteuber, Javier Campion, J. Alfredo Martínez, Alberto Maiz, José Luis Santos
Published 2015-03-01