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Wen-Chau Chen, Kuo-Chen Wu, Chih-Hsiung Hu, Tai-Chang Chern, I-Ming Jou. A compound heterozygous mutation of CYP27A1 gene in a Taiwanese patient with cerebrotendinous xanthomatosis. Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association. 2011 Nov;16(6):825-7

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PMID: 21553098

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