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Original Articles

A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis

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Pages 972-975 | Received 02 May 2018, Accepted 02 Jan 2020, Published online: 23 Jan 2020

Reference

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  • Chen W, Kubota S, Teramoto T, et al. Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5' splice site at the mutant codon in cerebrotendinous xanthomatosis patients. Biochemistry. 1998;37(13):4420–4428.
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