2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis
<p>Abstract</p> <p>Background</p> <p>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).</p> <p>Case Presentation</p> <p>...
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| Principais autores: | , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BMC
2011-10-01
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| סדרה: | BMC Neurology |
| נושאים: | |
| גישה מקוונת: | http://www.biomedcentral.com/1471-2377/11/130 |
| תגים: |
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