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

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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引用本文的文献

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Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene.单一骨科诊所中诊断较晚的脑腱黄瘤病患者：CYP27A1 基因的两个新变异。
Orphanet J Rare Dis. 2024 Feb 9;19(1):53. doi: 10.1186/s13023-024-03082-4.
2
Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis.中国人脑腱黄瘤病患者的临床和遗传特征。
Orphanet J Rare Dis. 2019 Dec 3;14(1):282. doi: 10.1186/s13023-019-1252-9.
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Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.
脑腱黄瘤病的神经学异常的自然病史。
J Inherit Metab Dis. 2018 Jul;41(4):647-656. doi: 10.1007/s10545-018-0152-9. Epub 2018 Feb 26.
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Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.中国人家族性脑腱黄瘤病患者的临床及分子遗传学特征。
Metab Brain Dis. 2017 Oct;32(5):1609-1618. doi: 10.1007/s11011-017-0047-8. Epub 2017 Jun 17.