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2011•Journal of Orthopaedic ScienceRequires access

A compound heterozygous mutation of CYP27A1 gene in a Taiwanese patient with cerebrotendinous xanthomatosis

Wen‐Chau Chen, Kuo-Chen Wu, Chih-Hsiung Hu, I‐Ming Jou, Tai‐Chang Chern

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Key concepts: Cerebrotendinous Xanthomatosis, Cholestanol, CYP27A1, Compound heterozygosity, Internal medicine, Mutation, Endocrinology, Medicine

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A compound heterozygous mutation of CYP27A1 gene in a Taiwanese patient with cerebrotendinous xanthomatosis — Research Paper | ScholarLens