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