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A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene.

作者信息

Koyama S, Kawanami T, Tanji H, Arawaka S, Wada M, Saito N, Kato T

机构信息

Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan.

出版信息

Clin Neurol Neurosurg. 2012 Sep;114(7):1021-3. doi: 10.1016/j.clineuro.2012.01.032. Epub 2012 Feb 13.

DOI:10.1016/j.clineuro.2012.01.032
PMID:22336472
Abstract
摘要

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