Article ISI
GENETICS AND MOLECULAR BIOLOGY  (2015)

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

Smalley, S. V.; Preiss, Y.; Suazo, J.; Vega, J. A.; Angellotti, I.; Lagos, C. F.; Rivera, E.; Kleinsteuber, K.; Campion, J.; Martinez, J. A.; Maiz, A.; Santos, J. L.