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

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作者信息

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

机构信息

Department of Emergency Medicine, College of Medicine, National Cheng-Kung University and Hospital, Tainan, Taiwan.

出版信息

J Orthop Sci. 2011 Nov;16(6):825-7. doi: 10.1007/s00776-011-0072-0. Epub 2011 May 7.

DOI:10.1007/s00776-011-0072-0

PMID:21553098

Abstract

摘要

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