2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis |
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| Authors: | Di Tian Zai-qiang Zhang |
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| Institution: | (1) Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, 6 Tiantan Xili, Chongwen District, Beijing, 100050, China |
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| Abstract: | Background Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investigated the clinic manifestation, histopathology
and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX). |
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