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

      Smalley, Susan; Preiss, Yudith; Suazo Sanhueza, José Lorenzo; Vega, Javier; Angellotti, Isidora; Lagos, Carlos; Rivera, Enzo; Kleinsteuber, Karin; Campion, Javier; Martínez, J. Alfredo; Maiz, Alberto; Santos, José Luis (Sociedade Brasileira de Genética, 2015)
      Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with ...