Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis. Genetics and Molecular Biology 2015, 38, 30-36. *Portada de Revista.
Authors
Smalley, SV; Preiss, Y; Suazo, J; Vega, JA; Angellotti, I; Lagos, CF; Rivera, E; Kleinsteuber, K; Campion, J; Martínez, JA; Maiz, A & Santos, JL.